Canonical Allele Identifier: CA068188

Gene: MYLK

Linked Data

• dbSNP Id: rs530951493
• ExAC: 3:123426869 C / T
• gnomAD v2: 3-123426869-C-T
• gnomAD v4: 3-123708022-C-T
• MyVariant Identifiers: chr3:g.123426869C>T (hg19) ; chr3:g.123708022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123708022C>T , CM000665.2:g.123708022C>T	GRCh38
NC_000003.11:g.123426869C>T , CM000665.1:g.123426869C>T	GRCh37
NC_000003.10:g.124909559C>T	NCBI36
NG_029111.1:g.181281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.1934-19G>A	ENSP00000320622.6:n.1934-19G>A
ENST00000686406.1:c.2141-19G>A	ENSP00000509044.1:n.2141-19G>A
ENST00000686761.1:c.2141-19G>A	ENSP00000508758.1:n.2141-19G>A
ENST00000686822.1:n.2035-19G>A
ENST00000687848.1:c.2171-19G>A	ENSP00000508761.1:n.2171-19G>A
ENST00000690457.1:c.1379-19G>A	ENSP00000508777.1:n.1379-19G>A
ENST00000693689.1:c.1934-19G>A	ENSP00000510503.1:n.1934-19G>A
ENST00000360304.8:c.2141-19G>A MANE Select	ENSP00000353452.3:n.2141-19G>A
ENST00000346322.9:c.1934-19G>A	ENSP00000320622.5:n.1934-19G>A
ENST00000354792.9:c.1934-19G>A	ENSP00000346846.6:n.1934-19G>A
ENST00000359169.5:c.2141-19G>A	ENSP00000352088.1:n.2141-19G>A
ENST00000360304.7:c.2141-19G>A	ENSP00000353452.3:n.2141-19G>A
ENST00000360772.7:c.2141-19G>A	ENSP00000354004.3:n.2141-19G>A
ENST00000464489.5:c.*1720-19G>A	ENSP00000417798.1:n.*1720-19G>A
ENST00000475616.5:c.2141-19G>A	ENSP00000418335.1:n.2141-19G>A
NM_053025.3:c.2141-19G>A	NP_444253.3:n.2141-19G>A
NM_053026.3:c.1934-19G>A	NP_444254.3:n.1934-19G>A
NM_053027.3:c.2141-19G>A	NP_444255.3:n.2141-19G>A
NM_053028.3:c.1934-19G>A	NP_444256.3:n.1934-19G>A
XM_011512860.1:c.2141-19G>A	XP_011511162.1:n.2141-19G>A
XM_011512861.1:c.2141-19G>A	XP_011511163.1:n.2141-19G>A
XM_011512862.1:c.1613-19G>A	XP_011511164.1:n.1613-19G>A
XR_241556.2:n.313+4013C>T
XR_427403.2:n.406+4013C>T
XR_924414.1:n.406+4013C>T
XR_924415.1:n.403+4013C>T
XR_924416.1:n.230+4013C>T
XR_924417.1:n.226+4013C>T
XR_924418.1:n.406+4013C>T
NM_001321309.1:c.1613-19G>A	NP_001308238.1:n.1613-19G>A
XM_011512860.3:c.2171-19G>A	XP_011511162.2:n.2171-19G>A
XM_011512861.3:c.2171-19G>A	XP_011511163.2:n.2171-19G>A
XM_024453532.1:c.2171-19G>A	XP_024309300.1:n.2171-19G>A
XM_024453533.1:c.2141-19G>A	XP_024309301.1:n.2141-19G>A
XM_024453534.1:c.1964-19G>A	XP_024309302.1:n.1964-19G>A
XM_024453535.1:c.1934-19G>A	XP_024309303.1:n.1934-19G>A
XM_024453536.1:c.2141-19G>A	XP_024309304.1:n.2141-19G>A
XM_024453537.1:c.2141-19G>A	XP_024309305.1:n.2141-19G>A
XR_001740871.2:n.406+4013C>T
XR_427403.4:n.406+4013C>T
XR_924414.3:n.406+4013C>T
XR_924417.3:n.251+4013C>T
XR_924418.3:n.406+4013C>T
NM_001321309.2:c.1613-19G>A	NP_001308238.1:n.1613-19G>A
NM_053025.4:c.2141-19G>A MANE Select	NP_444253.3:n.2141-19G>A
NM_053026.4:c.1934-19G>A	NP_444254.3:n.1934-19G>A
NM_053027.4:c.2141-19G>A	NP_444255.3:n.2141-19G>A
NM_053028.4:c.1934-19G>A	NP_444256.3:n.1934-19G>A