Canonical Allele Identifier: CA375314987

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398345G>A (hg19) ; chr9:g.131522958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522958G>A , CM000671.2:g.131522958G>A	GRCh38
NC_000009.11:g.134398345G>A , CM000671.1:g.134398345G>A	GRCh37
NC_000009.10:g.133388166G>A	NCBI36
NG_008896.1:g.25057G>A
NG_008896.2:g.25057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1868G>A	ENSP00000343034.7:p.Ser623Asn
ENST00000404875.7:n.2570G>A
ENST00000423007.6:c.2087G>A	ENSP00000404119.2:p.Ser696Asn
ENST00000677295.2:c.*2374G>A	ENSP00000504346.2:n.*2374G>A
ENST00000678264.2:c.*2213G>A	ENSP00000503157.2:n.*2213G>A
ENST00000682070.1:n.2340G>A
ENST00000682639.1:c.27G>A
ENST00000682813.1:n.2427G>A
ENST00000683231.1:c.27G>A
ENST00000683392.1:n.4622G>A
ENST00000683712.1:n.2435G>A
ENST00000683900.1:n.3930G>A
ENST00000684062.1:n.2696G>A
ENST00000684399.1:c.27G>A
ENST00000684579.1:n.3876G>A
ENST00000341012.12:c.1868G>A	ENSP00000343034.7:p.Ser623Asn
ENST00000372220.5:c.899G>A	ENSP00000361294.5:p.Ser300Asn
ENST00000372228.9:c.2096G>A	ENSP00000361302.3:p.Ser699Asn
ENST00000402686.8:c.2030G>A MANE Select	ENSP00000385797.4:p.Ser677Asn
ENST00000676640.1:c.2030G>A	ENSP00000503281.1:p.Ser677Asn
ENST00000676803.1:c.1091G>A	ENSP00000503093.1:p.Ser364Asn
ENST00000676835.1:c.*1245G>A	ENSP00000502911.1:n.*1245G>A
ENST00000677029.1:c.1574G>A	ENSP00000502936.1:p.Ser525Asn
ENST00000677099.1:c.*1740G>A	ENSP00000504553.1:n.*1740G>A
ENST00000677216.1:c.1679G>A	ENSP00000503772.1:p.Ser560Asn
ENST00000677221.1:n.1055G>A
ENST00000677295.1:c.*1252G>A	ENSP00000504346.1:n.*1252G>A
ENST00000677444.1:c.1975G>A
ENST00000677586.1:n.1397G>A
ENST00000677626.1:c.1679G>A	ENSP00000503552.1:p.Ser560Asn
ENST00000677853.1:c.*1038G>A	ENSP00000503488.1:n.*1038G>A
ENST00000678264.1:c.*1407G>A	ENSP00000503157.1:n.*1407G>A
ENST00000678303.1:c.1940G>A	ENSP00000503696.1:p.Ser647Asn
ENST00000678366.1:c.*2279G>A	ENSP00000504353.1:n.*2279G>A
ENST00000678546.1:c.*1975G>A	ENSP00000503062.1:n.*1975G>A
ENST00000678548.1:c.*2169G>A	ENSP00000503934.1:n.*2169G>A
ENST00000678626.1:n.1866G>A
ENST00000678739.1:c.*2196G>A	ENSP00000503806.1:n.*2196G>A
ENST00000678833.1:c.*1782G>A	ENSP00000503893.1:n.*1782G>A
ENST00000679023.1:c.1868G>A	ENSP00000503718.1:p.Ser623Asn
ENST00000679076.1:c.1649G>A
ENST00000679111.1:c.*786G>A	ENSP00000504257.1:n.*786G>A
ENST00000679189.1:c.1679G>A	ENSP00000503356.1:p.Ser560Asn
ENST00000341012.11:c.1868G>A	ENSP00000343034.7:p.Ser623Asn
ENST00000372220.4:c.893G>A	ENSP00000361294.4:p.Ser298Asn
ENST00000372228.7:c.2096G>A	ENSP00000361302.3:p.Ser699Asn
ENST00000402686.7:c.2030G>A	ENSP00000385797.3:p.Ser677Asn
ENST00000404875.6:c.1679G>A	ENSP00000384531.2:p.Ser560Asn
ENST00000423007.5:c.2030G>A	ENSP00000404119.1:p.Ser677Asn
ENST00000485278.5:n.2580G>A
NM_001077365.1:c.2030G>A	NP_001070833.1:p.Ser677Asn
NM_001077366.1:c.1868G>A	NP_001070834.1:p.Ser623Asn
NM_001136113.1:c.2030G>A	NP_001129585.1:p.Ser677Asn
NM_001136114.1:c.1679G>A	NP_001129586.1:p.Ser560Asn
NM_007171.3:c.2096G>A	NP_009102.3:p.Ser699Asn
XM_005272156.1:c.2096G>A	XP_005272213.1:p.Ser699Asn
XM_005272158.1:c.1934G>A	XP_005272215.1:p.Ser645Asn
XM_005272159.1:c.1745G>A	XP_005272216.1:p.Ser582Asn
XM_005272162.1:c.899G>A	XP_005272219.1:p.Ser300Asn
XM_006716932.1:c.1745G>A	XP_006716995.1:p.Ser582Asn
XM_011518140.1:c.1949G>A	XP_011516442.1:p.Ser650Asn
XM_011518141.1:c.1883G>A	XP_011516443.1:p.Ser628Asn
XM_011518142.1:c.1787G>A	XP_011516444.1:p.Ser596Asn
XM_011518143.1:c.1781G>A	XP_011516445.1:p.Ser594Asn
XM_011518145.1:c.1640G>A	XP_011516447.1:p.Ser547Asn
XM_011518147.1:c.968G>A	XP_011516449.1:p.Ser323Asn
XR_929703.1:n.2272G>A
NM_001353193.1:c.2096G>A	NP_001340122.1:p.Ser699Asn
NM_001353194.1:c.1868G>A	NP_001340123.1:p.Ser623Asn
NM_001353195.1:c.1679G>A	NP_001340124.1:p.Ser560Asn
NM_001353196.1:c.1940G>A	NP_001340125.1:p.Ser647Asn
NM_001353197.1:c.1934G>A	NP_001340126.1:p.Ser645Asn
NM_001353198.1:c.1934G>A	NP_001340127.1:p.Ser645Asn
NM_001353199.1:c.1745G>A	NP_001340128.1:p.Ser582Asn
NM_001353200.1:c.1574G>A	NP_001340129.1:p.Ser525Asn
NR_148391.1:n.2080G>A
NR_148392.1:n.2298G>A
NR_148393.1:n.2219G>A
NR_148394.1:n.1973G>A
NR_148395.1:n.2371G>A
NR_148396.1:n.2005G>A
NR_148397.1:n.2130G>A
NR_148398.1:n.2085G>A
NR_148399.1:n.2611G>A
NR_148400.1:n.2210G>A
XM_005272162.3:c.899G>A	XP_005272219.1:p.Ser300Asn
XM_006716932.2:c.1745G>A	XP_006716995.1:p.Ser582Asn
XM_011518140.2:c.1949G>A	XP_011516442.1:p.Ser650Asn
XM_011518141.2:c.1883G>A	XP_011516443.1:p.Ser628Asn
XM_011518142.2:c.1787G>A	XP_011516444.1:p.Ser596Asn
XM_011518143.2:c.1781G>A	XP_011516445.1:p.Ser594Asn
XM_011518145.2:c.1640G>A	XP_011516447.1:p.Ser547Asn
XM_017014205.2:c.899G>A	XP_016869694.1:p.Ser300Asn
XM_024447380.1:c.899G>A	XP_024303148.1:p.Ser300Asn
XM_024447381.1:c.1205G>A	XP_024303149.1:p.Ser402Asn
XM_024447382.1:c.899G>A	XP_024303150.1:p.Ser300Asn
XR_001746160.2:n.2200G>A
XR_001746162.2:n.2405G>A
XR_001746164.1:n.2122G>A
XR_001746166.2:n.2417G>A
NM_001077365.2:c.2030G>A MANE Select	NP_001070833.1:p.Ser677Asn
NM_001077366.2:c.1868G>A	NP_001070834.1:p.Ser623Asn
NM_001136113.2:c.2030G>A	NP_001129585.1:p.Ser677Asn
NM_001136114.2:c.1679G>A	NP_001129586.1:p.Ser560Asn
NM_001353193.2:c.2096G>A	NP_001340122.2:p.Ser699Asn
NM_001353194.2:c.1868G>A	NP_001340123.1:p.Ser623Asn
NM_001353195.2:c.1679G>A	NP_001340124.1:p.Ser560Asn
NM_001353196.2:c.1940G>A	NP_001340125.1:p.Ser647Asn
NM_001353197.2:c.1934G>A	NP_001340126.2:p.Ser645Asn
NM_001353198.2:c.1934G>A	NP_001340127.2:p.Ser645Asn
NM_001353199.2:c.1745G>A	NP_001340128.2:p.Ser582Asn
NM_001353200.2:c.1574G>A	NP_001340129.1:p.Ser525Asn
NM_001374689.1:c.2018G>A	NP_001361618.1:p.Ser673Asn
NM_001374690.1:c.1811G>A	NP_001361619.1:p.Ser604Asn
NM_001374691.1:c.1679G>A	NP_001361620.1:p.Ser560Asn
NM_001374692.1:c.1679G>A	NP_001361621.1:p.Ser560Asn
NM_001374693.1:c.1679G>A	NP_001361622.1:p.Ser560Asn
NM_001374695.1:c.1640G>A	NP_001361624.1:p.Ser547Asn
NM_007171.4:c.2096G>A	NP_009102.4:p.Ser699Asn
NR_148391.2:n.2064G>A
NR_148392.2:n.2282G>A
NR_148393.2:n.2203G>A
NR_148394.2:n.1957G>A
NR_148395.2:n.2355G>A
NR_148396.2:n.1989G>A
NR_148397.2:n.2114G>A
NR_148398.2:n.2069G>A
NR_148399.2:n.2595G>A
NR_148400.2:n.2194G>A