Canonical Allele Identifier: CA071751

Gene: MYLK

Linked Data

• dbSNP Id: rs746820711
• ExAC: 3:123366245 A / G
• gnomAD v2: 3-123366245-A-G
• MyVariant Identifiers: chr3:g.123366245A>G (hg19) ; chr3:g.123647398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647398A>G , CM000665.2:g.123647398A>G	GRCh38
NC_000003.11:g.123366245A>G , CM000665.1:g.123366245A>G	GRCh37
NC_000003.10:g.124848935A>G	NCBI36
NG_029111.1:g.241905T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4238T>C	ENSP00000320622.6:p.Val1413Ala
ENST00000508240.2:c.845T>C	ENSP00000422984.2:p.Val282Ala
ENST00000513111.2:n.575T>C
ENST00000684879.1:n.2077T>C
ENST00000685021.1:c.1679T>C	ENSP00000508447.1:p.Val560Ala
ENST00000685259.1:c.1964T>C
ENST00000685907.1:n.2226T>C
ENST00000685953.1:c.845T>C	ENSP00000510593.1:p.Val282Ala
ENST00000686039.1:c.1829T>C
ENST00000686245.1:c.1562T>C	ENSP00000509313.1:p.Val521Ala
ENST00000686406.1:c.4445T>C	ENSP00000509044.1:p.Val1482Ala
ENST00000686458.1:n.947T>C
ENST00000686761.1:c.4445T>C	ENSP00000508758.1:p.Val1482Ala
ENST00000686822.1:n.4339T>C
ENST00000687434.1:c.*661T>C	ENSP00000509751.1:n.*661T>C
ENST00000687709.1:n.2500T>C
ENST00000687848.1:c.4475T>C	ENSP00000508761.1:p.Val1492Ala
ENST00000688024.1:c.1679T>C	ENSP00000509803.1:p.Val560Ala
ENST00000688223.1:c.1649+1573T>C	ENSP00000508935.1:n.1649+1573T>C
ENST00000689868.1:n.2173T>C
ENST00000689918.1:n.520T>C
ENST00000690086.1:n.546T>C
ENST00000690167.1:n.2116T>C
ENST00000690457.1:c.3683T>C	ENSP00000508777.1:p.Val1228Ala
ENST00000690534.1:n.966T>C
ENST00000691933.1:c.2069T>C
ENST00000692352.1:c.1983T>C
ENST00000693689.1:c.4238T>C	ENSP00000510503.1:p.Val1413Ala
ENST00000360304.8:c.4445T>C MANE Select	ENSP00000353452.3:p.Val1482Ala
ENST00000346322.9:c.4238T>C	ENSP00000320622.5:p.Val1413Ala
ENST00000354792.9:c.4238T>C	ENSP00000346846.6:p.Val1413Ala
ENST00000359169.5:c.4445T>C	ENSP00000352088.1:p.Val1482Ala
ENST00000360304.7:c.4445T>C	ENSP00000353452.3:p.Val1482Ala
ENST00000360772.7:c.4445T>C	ENSP00000354004.3:p.Val1482Ala
ENST00000464489.5:c.*4024T>C	ENSP00000417798.1:n.*4024T>C
ENST00000475616.5:c.4445T>C	ENSP00000418335.1:p.Val1482Ala
ENST00000513111.1:n.157T>C
ENST00000514895.5:n.94+1573T>C
NM_053025.3:c.4445T>C	NP_444253.3:p.Val1482Ala
NM_053026.3:c.4238T>C	NP_444254.3:p.Val1413Ala
NM_053027.3:c.4445T>C	NP_444255.3:p.Val1482Ala
NM_053028.3:c.4238T>C	NP_444256.3:p.Val1413Ala
XM_011512860.1:c.4445T>C	XP_011511162.1:p.Val1482Ala
XM_011512861.1:c.4415+1573T>C	XP_011511163.1:n.4415+1573T>C
XM_011512862.1:c.3917T>C	XP_011511164.1:p.Val1306Ala
NM_001321309.1:c.3917T>C	NP_001308238.1:p.Val1306Ala
XM_011512860.3:c.4475T>C	XP_011511162.2:p.Val1492Ala
XM_011512861.3:c.4445+1573T>C	XP_011511163.2:n.4445+1573T>C
XM_017006469.2:c.1679T>C	XP_016861958.1:p.Val560Ala
XM_017006470.2:c.845T>C	XP_016861959.1:p.Val282Ala
XM_017006471.2:c.845T>C	XP_016861960.1:p.Val282Ala
XM_024453532.1:c.4475T>C	XP_024309300.1:p.Val1492Ala
XM_024453533.1:c.4445T>C	XP_024309301.1:p.Val1482Ala
XM_024453534.1:c.4268T>C	XP_024309302.1:p.Val1423Ala
XM_024453535.1:c.4238T>C	XP_024309303.1:p.Val1413Ala
XM_024453536.1:c.4445T>C	XP_024309304.1:p.Val1482Ala
XM_024453537.1:c.4445T>C	XP_024309305.1:p.Val1482Ala
NM_001321309.2:c.3917T>C	NP_001308238.1:p.Val1306Ala
NM_053025.4:c.4445T>C MANE Select	NP_444253.3:p.Val1482Ala
NM_053026.4:c.4238T>C	NP_444254.3:p.Val1413Ala
NM_053027.4:c.4445T>C	NP_444255.3:p.Val1482Ala
NM_053028.4:c.4238T>C	NP_444256.3:p.Val1413Ala