Canonical Allele Identifier: CA7285790
Community Standard Title: NM_013382.7(POMT2):c.1627C>A (p.Leu543Met)
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77283823G>T , CM000676.2:g.77283823G>T GRCh38
NC_000014.8:g.77750166G>T , CM000676.1:g.77750166G>T GRCh37
NC_000014.7:g.76819919G>T NCBI36
NG_008897.1:g.42060C>A , LRG_844:g.42060C>A

Transcript Alleles

HGVS Amino-acid Change
NM_013382.7:c.1627C>A MANE Select NP_037514.2:p.Leu543Met
ENST00000261534.9:c.1627C>A MANE Select ENSP00000261534.4:p.Leu543Met
NM_013382.5:c.1627C>A , LRG_844t1:c.1627C>A NP_037514.2:p.Leu543Met
NM_013382.6:c.1627C>A NP_037514.2:p.Leu543Met
ENST00000261534.8:c.1627C>A ENSP00000261534.4:p.Leu543Met
ENST00000452340.7:n.1650C>A
ENST00000554564.1:n.541C>A
ENST00000554767.5:n.2413C>A
ENST00000555134.1:n.266C>A
ENST00000555134.2:n.266C>A
ENST00000556171.1:c.30C>A
ENST00000556394.2:c.1168C>A ENSP00000451967.2:p.Leu390Met
ENST00000682247.1:c.1627C>A ENSP00000507213.1:p.Leu543Met
ENST00000682382.1:c.2275C>A
ENST00000682395.1:n.1805C>A
ENST00000682459.1:n.1330C>A
ENST00000682467.1:c.1627C>A ENSP00000508062.1:p.Leu543Met
ENST00000682560.1:c.203C>A ENSP00000507033.1:n.203C>A
ENST00000682729.1:c.211C>A
ENST00000682795.1:c.1627C>A ENSP00000507574.1:p.Leu543Met
ENST00000682895.1:n.1343C>A
ENST00000682925.1:c.51C>A
ENST00000682955.1:n.915C>A
ENST00000683188.1:c.1602C>A
ENST00000683380.1:n.1291C>A
ENST00000683585.1:n.81C>A
ENST00000683828.1:c.1336C>A
ENST00000684259.1:n.2441C>A
ENST00000684549.1:n.1178C>A
XM_011536675.1:c.1627C>A XP_011534977.1:p.Leu543Met
XM_011536675.2:c.1627C>A XP_011534977.1:p.Leu543Met
XM_011536676.1:c.1294C>A XP_011534978.1:p.Leu432Met
XM_011536676.2:c.1294C>A XP_011534978.1:p.Leu432Met
XM_011536677.1:c.1168C>A XP_011534979.1:p.Leu390Met
XM_011536677.3:c.1168C>A XP_011534979.1:p.Leu390Met
XM_011536678.1:c.1627C>A XP_011534980.1:p.Leu543Met
XM_011536679.1:c.721C>A XP_011534981.1:p.Leu241Met
XR_001750279.1:n.1827C>A
XR_001750282.1:n.2280C>A
XR_943416.1:n.1830C>A
XR_943416.3:n.1828C>A