Canonical Allele Identifier: CA2667314797

Gene: MYLK

Linked Data

• gnomAD v4: 3-123647207-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647207G>C , CM000665.2:g.123647207G>C	GRCh38
NC_000003.11:g.123366054G>C , CM000665.1:g.123366054G>C	GRCh37
NC_000003.10:g.124848744G>C	NCBI36
NG_029111.1:g.242096C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4412+17C>G	ENSP00000320622.6:n.4412+17C>G
ENST00000508240.2:c.1019+17C>G	ENSP00000422984.2:n.1019+17C>G
ENST00000684879.1:n.2251+17C>G
ENST00000685021.1:c.1853+17C>G	ENSP00000508447.1:n.1853+17C>G
ENST00000685259.1:c.2138+17C>G
ENST00000685907.1:n.2400+17C>G
ENST00000685953.1:c.1019+17C>G	ENSP00000510593.1:n.1019+17C>G
ENST00000686039.1:c.2003+17C>G
ENST00000686245.1:c.1736+17C>G	ENSP00000509313.1:n.1736+17C>G
ENST00000686406.1:c.4619+17C>G	ENSP00000509044.1:n.4619+17C>G
ENST00000686458.1:n.1121+17C>G
ENST00000686761.1:c.4619+17C>G	ENSP00000508758.1:n.4619+17C>G
ENST00000686822.1:n.4513+17C>G
ENST00000687434.1:c.*835+17C>G	ENSP00000509751.1:n.*835+17C>G
ENST00000687709.1:n.2674+17C>G
ENST00000687848.1:c.4649+17C>G	ENSP00000508761.1:n.4649+17C>G
ENST00000688024.1:c.1853+17C>G	ENSP00000509803.1:n.1853+17C>G
ENST00000688223.1:c.1649+1764C>G	ENSP00000508935.1:n.1649+1764C>G
ENST00000689868.1:n.2347+17C>G
ENST00000689918.1:n.694+17C>G
ENST00000690086.1:n.720+17C>G
ENST00000690167.1:n.2290+17C>G
ENST00000690457.1:c.3857+17C>G	ENSP00000508777.1:n.3857+17C>G
ENST00000690534.1:n.1140+17C>G
ENST00000691933.1:c.2243+17C>G
ENST00000692352.1:c.2174C>G
ENST00000693689.1:c.4412+17C>G	ENSP00000510503.1:n.4412+17C>G
ENST00000360304.8:c.4619+17C>G MANE Select	ENSP00000353452.3:n.4619+17C>G
ENST00000346322.9:c.4412+17C>G	ENSP00000320622.5:n.4412+17C>G
ENST00000354792.9:c.4412+17C>G	ENSP00000346846.6:n.4412+17C>G
ENST00000359169.5:c.4619+17C>G	ENSP00000352088.1:n.4619+17C>G
ENST00000360304.7:c.4619+17C>G	ENSP00000353452.3:n.4619+17C>G
ENST00000360772.7:c.4619+17C>G	ENSP00000354004.3:n.4619+17C>G
ENST00000464489.5:c.*4198+17C>G	ENSP00000417798.1:n.*4198+17C>G
ENST00000475616.5:c.4619+17C>G	ENSP00000418335.1:n.4619+17C>G
ENST00000513111.1:n.348C>G
ENST00000514895.5:n.94+1764C>G
NM_053025.3:c.4619+17C>G	NP_444253.3:n.4619+17C>G
NM_053026.3:c.4412+17C>G	NP_444254.3:n.4412+17C>G
NM_053027.3:c.4619+17C>G	NP_444255.3:n.4619+17C>G
NM_053028.3:c.4412+17C>G	NP_444256.3:n.4412+17C>G
XM_011512860.1:c.4619+17C>G	XP_011511162.1:n.4619+17C>G
XM_011512861.1:c.4415+1764C>G	XP_011511163.1:n.4415+1764C>G
XM_011512862.1:c.4091+17C>G	XP_011511164.1:n.4091+17C>G
NM_001321309.1:c.4091+17C>G	NP_001308238.1:n.4091+17C>G
XM_011512860.3:c.4649+17C>G	XP_011511162.2:n.4649+17C>G
XM_011512861.3:c.4445+1764C>G	XP_011511163.2:n.4445+1764C>G
XM_017006469.2:c.1853+17C>G	XP_016861958.1:n.1853+17C>G
XM_017006470.2:c.1019+17C>G	XP_016861959.1:n.1019+17C>G
XM_017006471.2:c.1019+17C>G	XP_016861960.1:n.1019+17C>G
XM_024453532.1:c.4649+17C>G	XP_024309300.1:n.4649+17C>G
XM_024453533.1:c.4619+17C>G	XP_024309301.1:n.4619+17C>G
XM_024453534.1:c.4442+17C>G	XP_024309302.1:n.4442+17C>G
XM_024453535.1:c.4412+17C>G	XP_024309303.1:n.4412+17C>G
XM_024453536.1:c.4619+17C>G	XP_024309304.1:n.4619+17C>G
XM_024453537.1:c.4619+17C>G	XP_024309305.1:n.4619+17C>G
NM_001321309.2:c.4091+17C>G	NP_001308238.1:n.4091+17C>G
NM_053025.4:c.4619+17C>G MANE Select	NP_444253.3:n.4619+17C>G
NM_053026.4:c.4412+17C>G	NP_444254.3:n.4412+17C>G
NM_053027.4:c.4619+17C>G	NP_444255.3:n.4619+17C>G
NM_053028.4:c.4412+17C>G	NP_444256.3:n.4412+17C>G