Canonical Allele Identifier: CA309565589

Gene: MYH14

Linked Data

• ClinVar Variation Id: 521868
• ClinVar RCV Id: RCV003718272
• dbSNP Id: rs988356194
• gnomAD v2: 19-50713888-T-C
• gnomAD v3: 19-50210631-T-C
• gnomAD v4: 19-50210631-T-C
• COSMIC: COSM4988655 ; COSM4988656 ; COSM4988657
• MyVariant Identifiers: chr19:g.50713888T>C (hg19) ; chr19:g.50210631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50210631T>C , CM000681.2:g.50210631T>C	GRCh38
NC_000019.9:g.50713888T>C , CM000681.1:g.50713888T>C	GRCh37
NC_000019.8:g.55405700T>C	NCBI36
NG_011645.1:g.12004T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000425460.6:c.266T>C	ENSP00000407879.1:p.Leu89Pro
ENST00000642316.2:c.266T>C MANE Select	ENSP00000493594.1:p.Leu89Pro
ENST00000642980.1:c.266T>C	ENSP00000493650.1:p.Leu89Pro
ENST00000646861.1:c.266T>C	ENSP00000493667.1:p.Leu89Pro
ENST00000376970.6:c.266T>C	ENSP00000366169.3:p.Leu89Pro
ENST00000425460.5:c.266T>C	ENSP00000407879.1:p.Leu89Pro
ENST00000440075.6:c.-2025T>C	ENSP00000406273.3:n.-2025T>C
ENST00000596571.5:c.266T>C	ENSP00000472819.1:p.Leu89Pro
ENST00000598205.5:c.266T>C	ENSP00000472543.1:p.Leu89Pro
ENST00000599920.5:c.266T>C	ENSP00000469573.1:p.Leu89Pro
ENST00000601313.5:c.266T>C	ENSP00000470298.1:p.Leu89Pro
NM_001077186.1:c.266T>C	NP_001070654.1:p.Leu89Pro
NM_001145809.1:c.266T>C	NP_001139281.1:p.Leu89Pro
NM_024729.3:c.266T>C	NP_079005.3:p.Leu89Pro
XM_006723386.2:c.266T>C	XP_006723449.1:p.Leu89Pro
XM_011527320.1:c.386T>C	XP_011525622.1:p.Leu129Pro
XM_011527321.1:c.386T>C	XP_011525623.1:p.Leu129Pro
XM_011527322.1:c.386T>C	XP_011525624.1:p.Leu129Pro
XM_011527323.1:c.266T>C	XP_011525625.1:p.Leu89Pro
XM_006723386.4:c.266T>C	XP_006723449.1:p.Leu89Pro
XM_011527320.2:c.386T>C	XP_011525622.1:p.Leu129Pro
XM_011527321.2:c.386T>C	XP_011525623.1:p.Leu129Pro
XM_011527323.2:c.266T>C	XP_011525625.1:p.Leu89Pro
XM_024451721.1:c.266T>C	XP_024307489.1:p.Leu89Pro
NM_001077186.2:c.266T>C	NP_001070654.1:p.Leu89Pro
NM_001145809.2:c.266T>C MANE Select	NP_001139281.1:p.Leu89Pro
NM_024729.4:c.266T>C	NP_079005.3:p.Leu89Pro