Canonical Allele Identifier: CA82958539

Gene: MYLK

Linked Data

• dbSNP Id: rs16834817
• gnomAD v2: 3-123578033-A-G
• gnomAD v3: 3-123859186-A-G
• gnomAD v4: 3-123859186-A-G
• MyVariant Identifiers: chr3:g.123578033A>G (hg19) ; chr3:g.123859186A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123859186A>G , CM000665.2:g.123859186A>G	GRCh38
NC_000003.11:g.123578033A>G , CM000665.1:g.123578033A>G	GRCh37
NC_000003.10:g.125060723A>G	NCBI36
NG_029111.1:g.30117T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000693689.1:c.-127+17373T>C	ENSP00000510503.1:n.-127+17373T>C
ENST00000360304.8:c.-127+17373T>C MANE Select	ENSP00000353452.3:n.-127+17373T>C
ENST00000346322.9:c.-127+17373T>C	ENSP00000320622.5:n.-127+17373T>C
ENST00000354792.9:c.-127+17373T>C	ENSP00000346846.6:n.-127+17373T>C
ENST00000359169.5:c.-127+17373T>C	ENSP00000352088.1:n.-127+17373T>C
ENST00000360304.7:c.-127+17373T>C	ENSP00000353452.3:n.-127+17373T>C
ENST00000360772.7:c.-195+17373T>C	ENSP00000354004.3:n.-195+17373T>C
ENST00000464489.5:c.-127+17373T>C	ENSP00000417798.1:n.-127+17373T>C
NM_053025.3:c.-127+17373T>C	NP_444253.3:n.-127+17373T>C
NM_053026.3:c.-127+17373T>C	NP_444254.3:n.-127+17373T>C
NM_053027.3:c.-127+17373T>C	NP_444255.3:n.-127+17373T>C
NM_053028.3:c.-127+17373T>C	NP_444256.3:n.-127+17373T>C
XM_011512862.1:c.-447+17373T>C	XP_011511164.1:n.-447+17373T>C
NM_001321309.1:c.-447+17373T>C	NP_001308238.1:n.-447+17373T>C
NM_001321309.2:c.-447+17373T>C	NP_001308238.1:n.-447+17373T>C
NM_053025.4:c.-127+17373T>C MANE Select	NP_444253.3:n.-127+17373T>C
NM_053026.4:c.-127+17373T>C	NP_444254.3:n.-127+17373T>C
NM_053027.4:c.-127+17373T>C	NP_444255.3:n.-127+17373T>C
NM_053028.4:c.-127+17373T>C	NP_444256.3:n.-127+17373T>C