Canonical Allele Identifier: CA8268105

Gene: MYO1C

Linked Data

• ClinVar Variation Id: 3163252
• ClinVar RCV Id: RCV004448635
• dbSNP Id: rs771536341
• ExAC: 17:1386956 G / T
• gnomAD v2: 17-1386956-G-T
• gnomAD v3: 17-1483662-G-T
• gnomAD v4: 17-1483662-G-T
• MyVariant Identifiers: chr17:g.1386956G>T (hg19) ; chr17:g.1483662G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1483662G>T , CM000679.2:g.1483662G>T	GRCh38
NC_000017.10:g.1386956G>T , CM000679.1:g.1386956G>T	GRCh37
NC_000017.9:g.1333706G>T	NCBI36
NG_047063.1:g.14046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361007.7:c.190C>A	ENSP00000354283.2:p.Gln64Lys
ENST00000570984.7:c.190C>A	ENSP00000459271.3:p.Gln64Lys
ENST00000646049.1:c.190C>A	ENSP00000493973.1:p.Gln64Lys
ENST00000648446.1:c.238C>A	ENSP00000496799.1:p.Gln80Lys
ENST00000648651.1:c.295C>A MANE Select	ENSP00000496954.1:p.Gln99Lys
ENST00000359786.9:c.295C>A	ENSP00000352834.5:p.Gln99Lys
ENST00000361007.6:c.190C>A	ENSP00000354283.2:p.Gln64Lys
ENST00000438665.6:c.238C>A	ENSP00000412197.2:p.Gln80Lys
ENST00000545534.6:c.223C>A	ENSP00000437685.2:p.Gln75Lys
ENST00000570490.5:c.229C>A	ENSP00000461682.1:p.Gln77Lys
ENST00000570984.6:c.190C>A	ENSP00000459271.2:p.Gln64Lys
ENST00000571715.1:c.190C>A	ENSP00000458610.1:p.Gln64Lys
ENST00000573853.5:c.190C>A	ENSP00000460831.1:p.Gln64Lys
ENST00000574790.5:c.190C>A	ENSP00000461175.1:p.Gln64Lys
ENST00000575158.5:c.190C>A	ENSP00000459174.1:p.Gln64Lys
ENST00000575335.5:c.190C>A	ENSP00000460415.1:p.Gln64Lys
NM_001080779.1:c.295C>A	NP_001074248.1:p.Gln99Lys
NM_001080950.1:c.238C>A	NP_001074419.1:p.Gln80Lys
NM_033375.4:c.190C>A	NP_203693.3:p.Gln64Lys
NM_001363855.1:c.223C>A	NP_001350784.1:p.Gln75Lys
XM_024450768.1:c.190C>A	XP_024306536.1:p.Gln64Lys
XM_024450769.1:c.190C>A	XP_024306537.1:p.Gln64Lys
NM_001080779.2:c.295C>A MANE Select	NP_001074248.1:p.Gln99Lys
NM_001080950.2:c.238C>A	NP_001074419.1:p.Gln80Lys
NM_033375.5:c.190C>A	NP_203693.3:p.Gln64Lys