Canonical Allele Identifier: CA690259801

Gene: MYO1A

Linked Data

• dbSNP Id: rs1174786745
• gnomAD v4: 12-57037589-CCAGCTCCCCCGAGGACATGCT-C
• MyVariant Identifiers: chr12:g.57431374_57431394del (hg19) ; chr12:g.57037590_57037610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57037600_57037620del , CM000674.2:g.57037600_57037620del	GRCh38
NC_000012.11:g.57431384_57431404del , CM000674.1:g.57431384_57431404del	GRCh37
NC_000012.10:g.55717651_55717671del	NCBI36
NG_012104.1:g.17500_17520del

Transcript Alleles

HGVS	Amino-acid change
ENST00000300119.8:c.1993_2013del MANE Select	ENSP00000300119.3:p.Ser665_Leu671del
ENST00000300119.7:c.1993_2013del	ENSP00000300119.3:p.Ser665_Leu671del
ENST00000442789.6:c.1993_2013del	ENSP00000393392.2:p.Ser665_Leu671del
ENST00000554234.5:c.1507_1527del	ENSP00000451033.1:p.Ser503_Leu509del
NM_001256041.1:c.1993_2013del	NP_001242970.1:p.Ser665_Leu671del
NM_005379.3:c.1993_2013del	NP_005370.1:p.Ser665_Leu671del
XM_011538373.1:c.1993_2013del	XP_011536675.1:p.Ser665_Leu671del
XM_011538373.2:c.1993_2013del	XP_011536675.1:p.Ser665_Leu671del
NM_005379.4:c.1993_2013del MANE Select	NP_005370.1:p.Ser665_Leu671del
NM_001256041.2:c.1993_2013del	NP_001242970.1:p.Ser665_Leu671del