Canonical Allele Identifier: CA467424211

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398427C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523040C>T , CM000671.2:g.131523040C>T	GRCh38
NC_000009.11:g.134398427C>T , CM000671.1:g.134398427C>T	GRCh37
NC_000009.10:g.133388248C>T	NCBI36
NG_008896.1:g.25139C>T
NG_008896.2:g.25139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1950C>T	ENSP00000343034.7:p.Leu650=
ENST00000404875.7:n.2652C>T
ENST00000423007.6:c.2169C>T	ENSP00000404119.2:p.Leu723=
ENST00000677295.2:c.*2456C>T	ENSP00000504346.2:n.*2456C>T
ENST00000678264.2:c.*2295C>T	ENSP00000503157.2:n.*2295C>T
ENST00000682070.1:n.2422C>T
ENST00000682639.1:c.109C>T
ENST00000682813.1:n.2509C>T
ENST00000683231.1:c.109C>T
ENST00000683392.1:n.4704C>T
ENST00000683712.1:n.2517C>T
ENST00000683900.1:n.4012C>T
ENST00000684062.1:n.2778C>T
ENST00000684399.1:c.109C>T
ENST00000684579.1:n.3958C>T
ENST00000341012.12:c.1950C>T	ENSP00000343034.7:p.Leu650=
ENST00000372220.5:c.981C>T	ENSP00000361294.5:p.Leu327=
ENST00000372228.9:c.2178C>T	ENSP00000361302.3:p.Leu726=
ENST00000402686.8:c.2112C>T MANE Select	ENSP00000385797.4:p.Leu704=
ENST00000676640.1:c.2112C>T	ENSP00000503281.1:p.Leu704=
ENST00000676803.1:c.1173C>T	ENSP00000503093.1:p.Leu391=
ENST00000676835.1:c.*1327C>T	ENSP00000502911.1:n.*1327C>T
ENST00000677029.1:c.1656C>T	ENSP00000502936.1:p.Leu552=
ENST00000677099.1:c.*1822C>T	ENSP00000504553.1:n.*1822C>T
ENST00000677216.1:c.1761C>T	ENSP00000503772.1:p.Leu587=
ENST00000677295.1:c.*1334C>T	ENSP00000504346.1:n.*1334C>T
ENST00000677444.1:c.2057C>T
ENST00000677586.1:n.1479C>T
ENST00000677626.1:c.1761C>T	ENSP00000503552.1:p.Leu587=
ENST00000677853.1:c.*1120C>T	ENSP00000503488.1:n.*1120C>T
ENST00000678264.1:c.*1489C>T	ENSP00000503157.1:n.*1489C>T
ENST00000678303.1:c.2022C>T	ENSP00000503696.1:p.Leu674=
ENST00000678366.1:c.*2361C>T	ENSP00000504353.1:n.*2361C>T
ENST00000678546.1:c.*2057C>T	ENSP00000503062.1:n.*2057C>T
ENST00000678548.1:c.*2251C>T	ENSP00000503934.1:n.*2251C>T
ENST00000678626.1:n.1948C>T
ENST00000678739.1:c.*2278C>T	ENSP00000503806.1:n.*2278C>T
ENST00000678833.1:c.*1864C>T	ENSP00000503893.1:n.*1864C>T
ENST00000679023.1:c.1950C>T	ENSP00000503718.1:p.Leu650=
ENST00000679076.1:c.1731C>T
ENST00000679111.1:c.*868C>T	ENSP00000504257.1:n.*868C>T
ENST00000679189.1:c.1761C>T	ENSP00000503356.1:p.Leu587=
ENST00000341012.11:c.1950C>T	ENSP00000343034.7:p.Leu650=
ENST00000372220.4:c.975C>T	ENSP00000361294.4:p.Leu325=
ENST00000372228.7:c.2178C>T	ENSP00000361302.3:p.Leu726=
ENST00000402686.7:c.2112C>T	ENSP00000385797.3:p.Leu704=
ENST00000404875.6:c.1761C>T	ENSP00000384531.2:p.Leu587=
ENST00000423007.5:c.2112C>T	ENSP00000404119.1:p.Leu704=
ENST00000485278.5:n.2662C>T
NM_001077365.1:c.2112C>T	NP_001070833.1:p.Leu704=
NM_001077366.1:c.1950C>T	NP_001070834.1:p.Leu650=
NM_001136113.1:c.2112C>T	NP_001129585.1:p.Leu704=
NM_001136114.1:c.1761C>T	NP_001129586.1:p.Leu587=
NM_007171.3:c.2178C>T	NP_009102.3:p.Leu726=
XM_005272156.1:c.2178C>T	XP_005272213.1:p.Leu726=
XM_005272158.1:c.2016C>T	XP_005272215.1:p.Leu672=
XM_005272159.1:c.1827C>T	XP_005272216.1:p.Leu609=
XM_005272162.1:c.981C>T	XP_005272219.1:p.Leu327=
XM_006716932.1:c.1827C>T	XP_006716995.1:p.Leu609=
XM_011518140.1:c.2031C>T	XP_011516442.1:p.Leu677=
XM_011518141.1:c.1965C>T	XP_011516443.1:p.Leu655=
XM_011518142.1:c.1869C>T	XP_011516444.1:p.Leu623=
XM_011518143.1:c.1863C>T	XP_011516445.1:p.Leu621=
XM_011518145.1:c.1722C>T	XP_011516447.1:p.Leu574=
XM_011518147.1:c.1050C>T	XP_011516449.1:p.Leu350=
XR_929703.1:n.2354C>T
NM_001353193.1:c.2178C>T	NP_001340122.1:p.Leu726=
NM_001353194.1:c.1950C>T	NP_001340123.1:p.Leu650=
NM_001353195.1:c.1761C>T	NP_001340124.1:p.Leu587=
NM_001353196.1:c.2022C>T	NP_001340125.1:p.Leu674=
NM_001353197.1:c.2016C>T	NP_001340126.1:p.Leu672=
NM_001353198.1:c.2016C>T	NP_001340127.1:p.Leu672=
NM_001353199.1:c.1827C>T	NP_001340128.1:p.Leu609=
NM_001353200.1:c.1656C>T	NP_001340129.1:p.Leu552=
NR_148391.1:n.2162C>T
NR_148392.1:n.2380C>T
NR_148393.1:n.2301C>T
NR_148394.1:n.2055C>T
NR_148395.1:n.2453C>T
NR_148396.1:n.2087C>T
NR_148397.1:n.2212C>T
NR_148398.1:n.2167C>T
NR_148399.1:n.2693C>T
NR_148400.1:n.2292C>T
XM_005272162.3:c.981C>T	XP_005272219.1:p.Leu327=
XM_006716932.2:c.1827C>T	XP_006716995.1:p.Leu609=
XM_011518140.2:c.2031C>T	XP_011516442.1:p.Leu677=
XM_011518141.2:c.1965C>T	XP_011516443.1:p.Leu655=
XM_011518142.2:c.1869C>T	XP_011516444.1:p.Leu623=
XM_011518143.2:c.1863C>T	XP_011516445.1:p.Leu621=
XM_011518145.2:c.1722C>T	XP_011516447.1:p.Leu574=
XM_017014205.2:c.981C>T	XP_016869694.1:p.Leu327=
XM_024447380.1:c.981C>T	XP_024303148.1:p.Leu327=
XM_024447381.1:c.1287C>T	XP_024303149.1:p.Leu429=
XM_024447382.1:c.981C>T	XP_024303150.1:p.Leu327=
XR_001746160.2:n.2282C>T
XR_001746162.2:n.2487C>T
XR_001746164.1:n.2204C>T
XR_001746166.2:n.2499C>T
NM_001077365.2:c.2112C>T MANE Select	NP_001070833.1:p.Leu704=
NM_001077366.2:c.1950C>T	NP_001070834.1:p.Leu650=
NM_001136113.2:c.2112C>T	NP_001129585.1:p.Leu704=
NM_001136114.2:c.1761C>T	NP_001129586.1:p.Leu587=
NM_001353193.2:c.2178C>T	NP_001340122.2:p.Leu726=
NM_001353194.2:c.1950C>T	NP_001340123.1:p.Leu650=
NM_001353195.2:c.1761C>T	NP_001340124.1:p.Leu587=
NM_001353196.2:c.2022C>T	NP_001340125.1:p.Leu674=
NM_001353197.2:c.2016C>T	NP_001340126.2:p.Leu672=
NM_001353198.2:c.2016C>T	NP_001340127.2:p.Leu672=
NM_001353199.2:c.1827C>T	NP_001340128.2:p.Leu609=
NM_001353200.2:c.1656C>T	NP_001340129.1:p.Leu552=
NM_001374689.1:c.2100C>T	NP_001361618.1:p.Leu700=
NM_001374690.1:c.1893C>T	NP_001361619.1:p.Leu631=
NM_001374691.1:c.1761C>T	NP_001361620.1:p.Leu587=
NM_001374692.1:c.1761C>T	NP_001361621.1:p.Leu587=
NM_001374693.1:c.1761C>T	NP_001361622.1:p.Leu587=
NM_001374695.1:c.1722C>T	NP_001361624.1:p.Leu574=
NM_007171.4:c.2178C>T	NP_009102.4:p.Leu726=
NR_148391.2:n.2146C>T
NR_148392.2:n.2364C>T
NR_148393.2:n.2285C>T
NR_148394.2:n.2039C>T
NR_148395.2:n.2437C>T
NR_148396.2:n.2071C>T
NR_148397.2:n.2196C>T
NR_148398.2:n.2151C>T
NR_148399.2:n.2677C>T
NR_148400.2:n.2276C>T