Canonical Allele Identifier: CA10616940

Gene: MYLK MYLK-AS1

Linked Data

• ClinVar Variation Id: 342824
• ClinVar RCV Id: RCV000307048
• dbSNP Id: rs886057838
• MyVariant Identifiers: chr3:g.123331281T>A (hg19) ; chr3:g.123612434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123612434T>A , CM000665.2:g.123612434T>A	GRCh38
NC_000003.11:g.123331281T>A , CM000665.1:g.123331281T>A	GRCh37
NC_000003.10:g.124813971T>A	NCBI36
NG_029111.1:g.276869A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685021.1:c.*1671A>T (MYLK)	ENSP00000508447.1:n.*1671A>T
ENST00000685744.1:c.*1671A>T (MYLK)	ENSP00000510047.1:n.*1671A>T
ENST00000686039.1:c.4800A>T (MYLK)
ENST00000687434.1:c.*3632A>T (MYLK)	ENSP00000509751.1:n.*3632A>T
ENST00000688024.1:c.*1671A>T (MYLK)	ENSP00000509803.1:n.*1671A>T
ENST00000688223.1:c.*1671A>T (MYLK)	ENSP00000508935.1:n.*1671A>T
ENST00000689868.1:n.7676A>T (MYLK)
ENST00000692507.1:n.3220A>T (MYLK)
ENST00000360304.8:c.*1671A>T (MYLK) MANE Select	ENSP00000353452.3:n.*1671A>T
ENST00000354792.9:c.*1671A>T (MYLK)	ENSP00000346846.6:n.*1671A>T
ENST00000359169.5:c.*1671A>T (MYLK)	ENSP00000352088.1:n.*1671A>T
ENST00000360304.7:c.*1671A>T (MYLK)	ENSP00000353452.3:n.*1671A>T
ENST00000360772.7:c.*1671A>T (MYLK)	ENSP00000354004.3:n.*1671A>T
ENST00000418370.6:c.*1671A>T (MYLK)	ENSP00000428967.1:n.*1671A>T
NM_053025.3:c.*1671A>T (MYLK)	NP_444253.3:n.*1671A>T
NM_053026.3:c.*1671A>T (MYLK)	NP_444254.3:n.*1671A>T
NM_053027.3:c.*1671A>T (MYLK)	NP_444255.3:n.*1671A>T
NM_053028.3:c.*1671A>T (MYLK)	NP_444256.3:n.*1671A>T
NM_053031.2:c.*1671A>T (MYLK)	NP_444259.1:n.*1671A>T
NM_053032.2:c.*1671A>T (MYLK)	NP_444260.1:n.*1671A>T
NR_038266.2:n.290-17060T>A (MYLK-AS1)
NR_121654.1:n.197-17060T>A (MYLK-AS1)
NM_001321309.1:c.*1671A>T (MYLK)	NP_001308238.1:n.*1671A>T
NM_053031.3:c.*1671A>T (MYLK)	NP_444259.1:n.*1671A>T
NM_053032.3:c.*1671A>T (MYLK)	NP_444260.1:n.*1671A>T
XM_017006472.2:c.*1671A>T (MYLK)	XP_016861961.1:n.*1671A>T
XM_017006473.1:c.*1671A>T (MYLK)	XP_016861962.1:n.*1671A>T
NM_001321309.2:c.*1671A>T (MYLK)	NP_001308238.1:n.*1671A>T
NM_053025.4:c.*1671A>T (MYLK) MANE Select	NP_444253.3:n.*1671A>T
NM_053026.4:c.*1671A>T (MYLK)	NP_444254.3:n.*1671A>T
NM_053027.4:c.*1671A>T (MYLK)	NP_444255.3:n.*1671A>T
NM_053028.4:c.*1671A>T (MYLK)	NP_444256.3:n.*1671A>T
NM_053031.4:c.*1671A>T (MYLK)	NP_444259.1:n.*1671A>T
NM_053032.4:c.*1671A>T (MYLK)	NP_444260.1:n.*1671A>T