Canonical Allele Identifier: CA068222

Gene: MYLK

Linked Data

• ClinVar Variation Id: 216969
• ClinVar RCV Id: RCV000198643
• dbSNP Id: rs150936840
• ExAC: 3:123426842 C / A
• gnomAD v2: 3-123426842-C-A
• gnomAD v3: 3-123707995-C-A
• gnomAD v4: 3-123707995-C-A
• MyVariant Identifiers: chr3:g.123426842C>A (hg19) ; chr3:g.123707995C>A (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123707995C>A , CM000665.2:g.123707995C>A	GRCh38
NC_000003.11:g.123426842C>A , CM000665.1:g.123426842C>A	GRCh37
NC_000003.10:g.124909532C>A	NCBI36
NG_029111.1:g.181308G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346322.10:c.1942G>T	ENSP00000320622.6:p.Asp648Tyr
ENST00000686406.1:c.2149G>T	ENSP00000509044.1:p.Asp717Tyr
ENST00000686761.1:c.2149G>T	ENSP00000508758.1:p.Asp717Tyr
ENST00000686822.1:n.2043G>T
ENST00000687848.1:c.2179G>T	ENSP00000508761.1:p.Asp727Tyr
ENST00000690457.1:c.1387G>T	ENSP00000508777.1:p.Asp463Tyr
ENST00000693689.1:c.1942G>T	ENSP00000510503.1:p.Asp648Tyr
ENST00000360304.8:c.2149G>T MANE Select	ENSP00000353452.3:p.Asp717Tyr
ENST00000346322.9:c.1942G>T	ENSP00000320622.5:p.Asp648Tyr
ENST00000354792.9:c.1942G>T	ENSP00000346846.6:p.Asp648Tyr
ENST00000359169.5:c.2149G>T	ENSP00000352088.1:p.Asp717Tyr
ENST00000360304.7:c.2149G>T	ENSP00000353452.3:p.Asp717Tyr
ENST00000360772.7:c.2149G>T	ENSP00000354004.3:p.Asp717Tyr
ENST00000464489.5:c.*1728G>T	ENSP00000417798.1:n.*1728G>T
ENST00000475616.5:c.2149G>T	ENSP00000418335.1:p.Asp717Tyr
NM_053025.3:c.2149G>T	NP_444253.3:p.Asp717Tyr
NM_053026.3:c.1942G>T	NP_444254.3:p.Asp648Tyr
NM_053027.3:c.2149G>T	NP_444255.3:p.Asp717Tyr
NM_053028.3:c.1942G>T	NP_444256.3:p.Asp648Tyr
XM_011512860.1:c.2149G>T	XP_011511162.1:p.Asp717Tyr
XM_011512861.1:c.2149G>T	XP_011511163.1:p.Asp717Tyr
XM_011512862.1:c.1621G>T	XP_011511164.1:p.Asp541Tyr
XR_241556.2:n.313+3986C>A
XR_427403.2:n.406+3986C>A
XR_924414.1:n.406+3986C>A
XR_924415.1:n.403+3986C>A
XR_924416.1:n.230+3986C>A
XR_924417.1:n.226+3986C>A
XR_924418.1:n.406+3986C>A
NM_001321309.1:c.1621G>T	NP_001308238.1:p.Asp541Tyr
XM_011512860.3:c.2179G>T	XP_011511162.2:p.Asp727Tyr
XM_011512861.3:c.2179G>T	XP_011511163.2:p.Asp727Tyr
XM_024453532.1:c.2179G>T	XP_024309300.1:p.Asp727Tyr
XM_024453533.1:c.2149G>T	XP_024309301.1:p.Asp717Tyr
XM_024453534.1:c.1972G>T	XP_024309302.1:p.Asp658Tyr
XM_024453535.1:c.1942G>T	XP_024309303.1:p.Asp648Tyr
XM_024453536.1:c.2149G>T	XP_024309304.1:p.Asp717Tyr
XM_024453537.1:c.2149G>T	XP_024309305.1:p.Asp717Tyr
XR_001740871.2:n.406+3986C>A
XR_427403.4:n.406+3986C>A
XR_924414.3:n.406+3986C>A
XR_924417.3:n.251+3986C>A
XR_924418.3:n.406+3986C>A
NM_001321309.2:c.1621G>T	NP_001308238.1:p.Asp541Tyr
NM_053025.4:c.2149G>T MANE Select	NP_444253.3:p.Asp717Tyr
NM_053026.4:c.1942G>T	NP_444254.3:p.Asp648Tyr
NM_053027.4:c.2149G>T	NP_444255.3:p.Asp717Tyr
NM_053028.4:c.1942G>T	NP_444256.3:p.Asp648Tyr