Canonical Allele Identifier: CA8622719

Gene: MYL4

Linked Data

• ClinVar Variation Id: 2155068
• ClinVar RCV Id: RCV003072146
• dbSNP Id: rs750824303
• ExAC: 17:45299051 T / C
• gnomAD v2: 17-45299051-T-C
• gnomAD v3: 17-47221685-T-C
• gnomAD v4: 17-47221685-T-C
• COSMIC: COSM4579782
• MyVariant Identifiers: chr17:g.45299051T>C (hg19) ; chr17:g.47221685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221685T>C , CM000679.2:g.47221685T>C	GRCh38
NC_000017.10:g.45299051T>C , CM000679.1:g.45299051T>C	GRCh37
NC_000017.9:g.42654050T>C	NCBI36
NG_052847.1:g.17669T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354968.5:c.317T>C	ENSP00000347055.1:p.Met106Thr
ENST00000393450.5:c.317T>C MANE Select	ENSP00000377096.1:p.Met106Thr
ENST00000536623.6:c.317T>C	ENSP00000442375.2:p.Met106Thr
ENST00000570671.1:c.28T>C
ENST00000570772.5:c.*103T>C	ENSP00000458194.1:n.*103T>C
ENST00000571981.5:c.*103T>C	ENSP00000459035.1:n.*103T>C
ENST00000572303.1:c.410T>C	ENSP00000461747.1:p.Met137Thr
ENST00000572316.5:c.317T>C	ENSP00000461570.1:p.Met106Thr
ENST00000573747.6:c.314-47T>C	ENSP00000460734.1:n.314-47T>C
ENST00000576874.5:c.317T>C	ENSP00000458907.1:p.Met106Thr
NM_001002841.1:c.317T>C	NP_001002841.1:p.Met106Thr
NM_002476.2:c.317T>C MANE Select	NP_002467.1:p.Met106Thr
XM_005257391.3:c.317T>C	XP_005257448.1:p.Met106Thr
XM_011524838.1:c.317T>C	XP_011523140.1:p.Met106Thr
XM_011524839.1:c.107T>C	XP_011523141.1:p.Met36Thr
XM_005257391.5:c.317T>C	XP_005257448.1:p.Met106Thr
XM_011524839.2:c.410T>C	XP_011523141.2:p.Met137Thr
XM_017024683.1:c.410T>C	XP_016880172.1:p.Met137Thr
XM_024450766.1:c.410T>C	XP_024306534.1:p.Met137Thr
NM_001002841.2:c.317T>C	NP_001002841.1:p.Met106Thr