Canonical Allele Identifier: CA354226984

Gene: MYLK

Linked Data

• MyVariant Identifiers: chr3:g.123366092T>G (hg19) ; chr3:g.123647245T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647245T>G , CM000665.2:g.123647245T>G	GRCh38
NC_000003.11:g.123366092T>G , CM000665.1:g.123366092T>G	GRCh37
NC_000003.10:g.124848782T>G	NCBI36
NG_029111.1:g.242058A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4391A>C	ENSP00000320622.6:p.Asn1464Thr
ENST00000508240.2:c.998A>C	ENSP00000422984.2:p.Asn333Thr
ENST00000513111.2:n.728A>C
ENST00000684879.1:n.2230A>C
ENST00000685021.1:c.1832A>C	ENSP00000508447.1:p.Asn611Thr
ENST00000685259.1:c.2117A>C
ENST00000685907.1:n.2379A>C
ENST00000685953.1:c.998A>C	ENSP00000510593.1:p.Asn333Thr
ENST00000686039.1:c.1982A>C
ENST00000686245.1:c.1715A>C	ENSP00000509313.1:p.Asn572Thr
ENST00000686406.1:c.4598A>C	ENSP00000509044.1:p.Asn1533Thr
ENST00000686458.1:n.1100A>C
ENST00000686761.1:c.4598A>C	ENSP00000508758.1:p.Asn1533Thr
ENST00000686822.1:n.4492A>C
ENST00000687434.1:c.*814A>C	ENSP00000509751.1:n.*814A>C
ENST00000687709.1:n.2653A>C
ENST00000687848.1:c.4628A>C	ENSP00000508761.1:p.Asn1543Thr
ENST00000688024.1:c.1832A>C	ENSP00000509803.1:p.Asn611Thr
ENST00000688223.1:c.1649+1726A>C	ENSP00000508935.1:n.1649+1726A>C
ENST00000689868.1:n.2326A>C
ENST00000689918.1:n.673A>C
ENST00000690086.1:n.699A>C
ENST00000690167.1:n.2269A>C
ENST00000690457.1:c.3836A>C	ENSP00000508777.1:p.Asn1279Thr
ENST00000690534.1:n.1119A>C
ENST00000691933.1:c.2222A>C
ENST00000692352.1:c.2136A>C
ENST00000693689.1:c.4391A>C	ENSP00000510503.1:p.Asn1464Thr
ENST00000360304.8:c.4598A>C MANE Select	ENSP00000353452.3:p.Asn1533Thr
ENST00000346322.9:c.4391A>C	ENSP00000320622.5:p.Asn1464Thr
ENST00000354792.9:c.4391A>C	ENSP00000346846.6:p.Asn1464Thr
ENST00000359169.5:c.4598A>C	ENSP00000352088.1:p.Asn1533Thr
ENST00000360304.7:c.4598A>C	ENSP00000353452.3:p.Asn1533Thr
ENST00000360772.7:c.4598A>C	ENSP00000354004.3:p.Asn1533Thr
ENST00000464489.5:c.*4177A>C	ENSP00000417798.1:n.*4177A>C
ENST00000475616.5:c.4598A>C	ENSP00000418335.1:p.Asn1533Thr
ENST00000513111.1:n.310A>C
ENST00000514895.5:n.94+1726A>C
NM_053025.3:c.4598A>C	NP_444253.3:p.Asn1533Thr
NM_053026.3:c.4391A>C	NP_444254.3:p.Asn1464Thr
NM_053027.3:c.4598A>C	NP_444255.3:p.Asn1533Thr
NM_053028.3:c.4391A>C	NP_444256.3:p.Asn1464Thr
XM_011512860.1:c.4598A>C	XP_011511162.1:p.Asn1533Thr
XM_011512861.1:c.4415+1726A>C	XP_011511163.1:n.4415+1726A>C
XM_011512862.1:c.4070A>C	XP_011511164.1:p.Asn1357Thr
NM_001321309.1:c.4070A>C	NP_001308238.1:p.Asn1357Thr
XM_011512860.3:c.4628A>C	XP_011511162.2:p.Asn1543Thr
XM_011512861.3:c.4445+1726A>C	XP_011511163.2:n.4445+1726A>C
XM_017006469.2:c.1832A>C	XP_016861958.1:p.Asn611Thr
XM_017006470.2:c.998A>C	XP_016861959.1:p.Asn333Thr
XM_017006471.2:c.998A>C	XP_016861960.1:p.Asn333Thr
XM_024453532.1:c.4628A>C	XP_024309300.1:p.Asn1543Thr
XM_024453533.1:c.4598A>C	XP_024309301.1:p.Asn1533Thr
XM_024453534.1:c.4421A>C	XP_024309302.1:p.Asn1474Thr
XM_024453535.1:c.4391A>C	XP_024309303.1:p.Asn1464Thr
XM_024453536.1:c.4598A>C	XP_024309304.1:p.Asn1533Thr
XM_024453537.1:c.4598A>C	XP_024309305.1:p.Asn1533Thr
NM_001321309.2:c.4070A>C	NP_001308238.1:p.Asn1357Thr
NM_053025.4:c.4598A>C MANE Select	NP_444253.3:p.Asn1533Thr
NM_053026.4:c.4391A>C	NP_444254.3:p.Asn1464Thr
NM_053027.4:c.4598A>C	NP_444255.3:p.Asn1533Thr
NM_053028.4:c.4391A>C	NP_444256.3:p.Asn1464Thr