Canonical Allele Identifier: CA8266627
Gene: MYO1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1467248C>A , CM000679.2:g.1467248C>A GRCh38
NC_000017.10:g.1370542C>A , CM000679.1:g.1370542C>A GRCh37
NC_000017.9:g.1317292C>A NCBI36
NG_047063.1:g.30460G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361007.7:c.3054G>T ENSP00000354283.2:p.Leu1018=
ENST00000570984.7:c.3054G>T ENSP00000459271.3:p.Leu1018=
ENST00000646049.1:c.3054G>T ENSP00000493973.1:p.Leu1018=
ENST00000648446.1:c.3102G>T ENSP00000496799.1:p.Leu1034=
ENST00000648651.1:c.3159G>T MANE Select ENSP00000496954.1:p.Leu1053=
ENST00000359786.9:c.3159G>T ENSP00000352834.5:p.Leu1053=
ENST00000361007.6:c.3054G>T ENSP00000354283.2:p.Leu1018=
ENST00000438665.6:c.3102G>T ENSP00000412197.2:p.Leu1034=
ENST00000545534.6:c.3087G>T ENSP00000437685.2:p.Leu1029=
ENST00000575158.5:c.3054G>T ENSP00000459174.1:p.Leu1018=
NM_001080779.1:c.3159G>T NP_001074248.1:p.Leu1053=
NM_001080950.1:c.3102G>T NP_001074419.1:p.Leu1034=
NM_033375.4:c.3054G>T NP_203693.3:p.Leu1018=
NM_001363855.1:c.3087G>T NP_001350784.1:p.Leu1029=
XM_024450768.1:c.3054G>T XP_024306536.1:p.Leu1018=
XM_024450769.1:c.3054G>T XP_024306537.1:p.Leu1018=
NM_001080779.2:c.3159G>T MANE Select NP_001074248.1:p.Leu1053=
NM_001080950.2:c.3102G>T NP_001074419.1:p.Leu1034=
NM_033375.5:c.3054G>T NP_203693.3:p.Leu1018=