Canonical Allele Identifier: CA237703890

Gene: MYO1A

Linked Data

• dbSNP Id: rs1052984156
• gnomAD v2: 12-57435149-A-T
• gnomAD v3: 12-57041365-A-T
• gnomAD v4: 12-57041365-A-T
• MyVariant Identifiers: chr12:g.57435149A>T (hg19) ; chr12:g.57041365A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57041365A>T , CM000674.2:g.57041365A>T	GRCh38
NC_000012.11:g.57435149A>T , CM000674.1:g.57435149A>T	GRCh37
NC_000012.10:g.55721416A>T	NCBI36
NG_012104.1:g.13745T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.1164+67T>A MANE Select	ENSP00000300119.3:n.1164+67T>A
ENST00000300119.7:c.1164+67T>A	ENSP00000300119.3:n.1164+67T>A
ENST00000442789.6:c.1164+67T>A	ENSP00000393392.2:n.1164+67T>A
ENST00000554234.5:c.678+67T>A	ENSP00000451033.1:n.678+67T>A
NM_001256041.1:c.1164+67T>A	NP_001242970.1:n.1164+67T>A
NM_005379.3:c.1164+67T>A	NP_005370.1:n.1164+67T>A
XM_011538373.1:c.1164+67T>A	XP_011536675.1:n.1164+67T>A
XM_011538373.2:c.1164+67T>A	XP_011536675.1:n.1164+67T>A
NM_005379.4:c.1164+67T>A MANE Select	NP_005370.1:n.1164+67T>A
NM_001256041.2:c.1164+67T>A	NP_001242970.1:n.1164+67T>A