Canonical Allele Identifier: CA545972907
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI
ClinVar RCV:
RCV001148761
ClinVar Variation:
902303
dbSNP:
1233084998
gnomAD v2:
3:123332563 C / G
gnomAD v3:
3:123613716 C / G
gnomAD v4:
chr3-123613716-C-G
Joint Max Group AF 0.00000226 (NFE)
MyVariant.info:
GRCh38 chr3:g.123613716C>G
GRCh37 chr3:g.123332563C>G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123613716C>G , CM000665.2:g.123613716C>G GRCh38
NC_000003.11:g.123332563C>G , CM000665.1:g.123332563C>G GRCh37
NC_000003.10:g.124815253C>G NCBI36
NG_029111.1:g.275587G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000578202.2:c.*639G>C (MYLK) ENSP00000463691.2:n.*639G>C
ENST00000685021.1:c.*389G>C (MYLK) ENSP00000508447.1:n.*389G>C
ENST00000685744.1:c.*389G>C (MYLK) ENSP00000510047.1:n.*389G>C
ENST00000685953.1:c.*389G>C (MYLK) ENSP00000510593.1:n.*389G>C
ENST00000686039.1:c.3518G>C (MYLK)
ENST00000687434.1:c.*2350G>C (MYLK) ENSP00000509751.1:n.*2350G>C
ENST00000688024.1:c.*389G>C (MYLK) ENSP00000509803.1:n.*389G>C
ENST00000688223.1:c.*389G>C (MYLK) ENSP00000508935.1:n.*389G>C
ENST00000689868.1:n.6394G>C (MYLK)
ENST00000691933.1:c.3758G>C (MYLK)
ENST00000692356.1:c.*389G>C (MYLK) ENSP00000509805.1:n.*389G>C
ENST00000692507.1:n.1938G>C (MYLK)
ENST00000693689.1:c.*389G>C (MYLK) ENSP00000510503.1:n.*389G>C
ENST00000360304.8:c.*389G>C (MYLK) MANE Select ENSP00000353452.3:n.*389G>C
ENST00000354792.9:c.*389G>C (MYLK) ENSP00000346846.6:n.*389G>C
ENST00000359169.5:c.*389G>C (MYLK) ENSP00000352088.1:n.*389G>C
ENST00000360304.7:c.*389G>C (MYLK) ENSP00000353452.3:n.*389G>C
ENST00000360772.7:c.*389G>C (MYLK) ENSP00000354004.3:n.*389G>C
ENST00000418370.6:c.*389G>C (MYLK) ENSP00000428967.1:n.*389G>C
ENST00000578202.1:c.*389G>C (MYLK) ENSP00000463691.1:n.*389G>C
NM_053025.3:c.*389G>C (MYLK) NP_444253.3:n.*389G>C
NM_053026.3:c.*389G>C (MYLK) NP_444254.3:n.*389G>C
NM_053027.3:c.*389G>C (MYLK) NP_444255.3:n.*389G>C
NM_053028.3:c.*389G>C (MYLK) NP_444256.3:n.*389G>C
NM_053031.2:c.*389G>C (MYLK) NP_444259.1:n.*389G>C
NM_053032.2:c.*389G>C (MYLK) NP_444260.1:n.*389G>C
NR_038266.2:n.290-15778C>G (MYLK-AS1)
NR_121654.1:n.197-15778C>G (MYLK-AS1)
NM_001321309.1:c.*389G>C (MYLK) NP_001308238.1:n.*389G>C
NM_053031.3:c.*389G>C (MYLK) NP_444259.1:n.*389G>C
NM_053032.3:c.*389G>C (MYLK) NP_444260.1:n.*389G>C
XM_017006469.2:c.*389G>C (MYLK) XP_016861958.1:n.*389G>C
XM_017006470.2:c.*389G>C (MYLK) XP_016861959.1:n.*389G>C
XM_017006471.2:c.*389G>C (MYLK) XP_016861960.1:n.*389G>C
XM_017006472.2:c.*389G>C (MYLK) XP_016861961.1:n.*389G>C
XM_017006473.1:c.*389G>C (MYLK) XP_016861962.1:n.*389G>C
NM_001321309.2:c.*389G>C (MYLK) NP_001308238.1:n.*389G>C
NM_053025.4:c.*389G>C (MYLK) MANE Select NP_444253.3:n.*389G>C
NM_053026.4:c.*389G>C (MYLK) NP_444254.3:n.*389G>C
NM_053027.4:c.*389G>C (MYLK) NP_444255.3:n.*389G>C
NM_053028.4:c.*389G>C (MYLK) NP_444256.3:n.*389G>C
NM_053031.4:c.*389G>C (MYLK) NP_444259.1:n.*389G>C
NM_053032.4:c.*389G>C (MYLK) NP_444260.1:n.*389G>C
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