Canonical Allele Identifier: CA8267481

Gene: MYO1C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1477531A>G , CM000679.2:g.1477531A>G	GRCh38
NC_000017.10:g.1380825A>G , CM000679.1:g.1380825A>G	GRCh37
NC_000017.9:g.1327575A>G	NCBI36
NG_047063.1:g.20177T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001080779.2:c.1548T>C MANE Select	NP_001074248.1:p.Thr516=
ENST00000648651.1:c.1548T>C MANE Select	ENSP00000496954.1:p.Thr516=
NM_001080779.1:c.1548T>C	NP_001074248.1:p.Thr516=
NM_001080950.1:c.1491T>C	NP_001074419.1:p.Thr497=
NM_001080950.2:c.1491T>C	NP_001074419.1:p.Thr497=
NM_001363855.1:c.1476T>C	NP_001350784.1:p.Thr492=
NM_033375.4:c.1443T>C	NP_203693.3:p.Thr481=
NM_033375.5:c.1443T>C	NP_203693.3:p.Thr481=
ENST00000359786.9:c.1548T>C	ENSP00000352834.5:p.Thr516=
ENST00000361007.6:c.1443T>C	ENSP00000354283.2:p.Thr481=
ENST00000361007.7:c.1443T>C	ENSP00000354283.2:p.Thr481=
ENST00000438665.6:c.1491T>C	ENSP00000412197.2:p.Thr497=
ENST00000545534.6:c.1476T>C	ENSP00000437685.2:p.Thr492=
ENST00000570984.7:c.1443T>C	ENSP00000459271.3:p.Thr481=
ENST00000573961.1:n.202T>C
ENST00000575158.5:c.1443T>C	ENSP00000459174.1:p.Thr481=
ENST00000646049.1:c.1443T>C	ENSP00000493973.1:p.Thr481=
ENST00000648446.1:c.1491T>C	ENSP00000496799.1:p.Thr497=
XM_024450768.1:c.1443T>C	XP_024306536.1:p.Thr481=
XM_024450769.1:c.1443T>C	XP_024306537.1:p.Thr481=