Canonical Allele Identifier: CA82939398

Gene: MYLK

Linked Data

• dbSNP Id: rs576112195
• gnomAD v3: 3-123689625-C-A
• gnomAD v4: 3-123689625-C-A
• MyVariant Identifiers: chr3:g.123408472C>A (hg19) ; chr3:g.123689625C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123689625C>A , CM000665.2:g.123689625C>A	GRCh38
NC_000003.11:g.123408472C>A , CM000665.1:g.123408472C>A	GRCh37
NC_000003.10:g.124891162C>A	NCBI36
NG_029111.1:g.199678G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346322.10:c.3358+3110G>T	ENSP00000320622.6:n.3358+3110G>T
ENST00000504946.6:c.1175+3110G>T
ENST00000508240.2:c.-36+2658G>T	ENSP00000422984.2:n.-36+2658G>T
ENST00000684879.1:n.1197+3110G>T
ENST00000685021.1:c.799+3110G>T	ENSP00000508447.1:n.799+3110G>T
ENST00000685259.1:c.1103+3110G>T
ENST00000685907.1:n.1346+3110G>T
ENST00000685953.1:c.-36+2658G>T	ENSP00000510593.1:n.-36+2658G>T
ENST00000686039.1:c.1103+3110G>T
ENST00000686245.1:c.683-7315G>T	ENSP00000509313.1:n.683-7315G>T
ENST00000686406.1:c.3565+3110G>T	ENSP00000509044.1:n.3565+3110G>T
ENST00000686761.1:c.3565+3110G>T	ENSP00000508758.1:n.3565+3110G>T
ENST00000686822.1:n.3459+3110G>T
ENST00000687434.1:c.-36+2658G>T	ENSP00000509751.1:n.-36+2658G>T
ENST00000687709.1:n.830+3110G>T
ENST00000687848.1:c.3595+3110G>T	ENSP00000508761.1:n.3595+3110G>T
ENST00000688024.1:c.799+3110G>T	ENSP00000509803.1:n.799+3110G>T
ENST00000688223.1:c.799+3110G>T	ENSP00000508935.1:n.799+3110G>T
ENST00000689227.1:c.1238+3110G>T
ENST00000689868.1:n.1293+3110G>T
ENST00000690167.1:n.1236+3110G>T
ENST00000690457.1:c.2803+3110G>T	ENSP00000508777.1:n.2803+3110G>T
ENST00000691933.1:c.1103+3110G>T
ENST00000692352.1:c.1103+3110G>T
ENST00000693689.1:c.3358+3110G>T	ENSP00000510503.1:n.3358+3110G>T
ENST00000360304.8:c.3565+3110G>T MANE Select	ENSP00000353452.3:n.3565+3110G>T
ENST00000346322.9:c.3358+3110G>T	ENSP00000320622.5:n.3358+3110G>T
ENST00000354792.9:c.3358+3110G>T	ENSP00000346846.6:n.3358+3110G>T
ENST00000359169.5:c.3565+3110G>T	ENSP00000352088.1:n.3565+3110G>T
ENST00000360304.7:c.3565+3110G>T	ENSP00000353452.3:n.3565+3110G>T
ENST00000360772.7:c.3565+3110G>T	ENSP00000354004.3:n.3565+3110G>T
ENST00000464489.5:c.*3144+3110G>T	ENSP00000417798.1:n.*3144+3110G>T
ENST00000475616.5:c.3565+3110G>T	ENSP00000418335.1:n.3565+3110G>T
ENST00000504946.5:n.1123+3110G>T
ENST00000508240.1:c.-36+2658G>T	ENSP00000422984.1:n.-36+2658G>T
ENST00000510775.5:n.283+3110G>T
NM_053025.3:c.3565+3110G>T	NP_444253.3:n.3565+3110G>T
NM_053026.3:c.3358+3110G>T	NP_444254.3:n.3358+3110G>T
NM_053027.3:c.3565+3110G>T	NP_444255.3:n.3565+3110G>T
NM_053028.3:c.3358+3110G>T	NP_444256.3:n.3358+3110G>T
XM_011512860.1:c.3565+3110G>T	XP_011511162.1:n.3565+3110G>T
XM_011512861.1:c.3565+3110G>T	XP_011511163.1:n.3565+3110G>T
XM_011512862.1:c.3037+3110G>T	XP_011511164.1:n.3037+3110G>T
NM_001321309.1:c.3037+3110G>T	NP_001308238.1:n.3037+3110G>T
XM_011512860.3:c.3595+3110G>T	XP_011511162.2:n.3595+3110G>T
XM_011512861.3:c.3595+3110G>T	XP_011511163.2:n.3595+3110G>T
XM_017006469.2:c.799+3110G>T	XP_016861958.1:n.799+3110G>T
XM_017006470.2:c.-36+2658G>T	XP_016861959.1:n.-36+2658G>T
XM_017006471.2:c.-36+2658G>T	XP_016861960.1:n.-36+2658G>T
XM_024453532.1:c.3595+3110G>T	XP_024309300.1:n.3595+3110G>T
XM_024453533.1:c.3565+3110G>T	XP_024309301.1:n.3565+3110G>T
XM_024453534.1:c.3388+3110G>T	XP_024309302.1:n.3388+3110G>T
XM_024453535.1:c.3358+3110G>T	XP_024309303.1:n.3358+3110G>T
XM_024453536.1:c.3565+3110G>T	XP_024309304.1:n.3565+3110G>T
XM_024453537.1:c.3565+3110G>T	XP_024309305.1:n.3565+3110G>T
NM_001321309.2:c.3037+3110G>T	NP_001308238.1:n.3037+3110G>T
NM_053025.4:c.3565+3110G>T MANE Select	NP_444253.3:n.3565+3110G>T
NM_053026.4:c.3358+3110G>T	NP_444254.3:n.3358+3110G>T
NM_053027.4:c.3565+3110G>T	NP_444255.3:n.3565+3110G>T
NM_053028.4:c.3358+3110G>T	NP_444256.3:n.3358+3110G>T