Canonical Allele Identifier: CA406946256
Community Standard Title: NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro)
Gene: MYH14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50261575T>C , CM000681.2:g.50261575T>C GRCh38
NC_000019.9:g.50764832T>C , CM000681.1:g.50764832T>C GRCh37
NC_000019.8:g.55456644T>C NCBI36
NG_011645.1:g.62948T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001145809.2:c.2525T>C MANE Select NP_001139281.1:p.Leu842Pro
ENST00000642316.2:c.2525T>C MANE Select ENSP00000493594.1:p.Leu842Pro
NM_001077186.1:c.2426T>C NP_001070654.1:p.Leu809Pro
NM_001077186.2:c.2426T>C NP_001070654.1:p.Leu809Pro
NM_001145809.1:c.2525T>C NP_001139281.1:p.Leu842Pro
NM_024729.3:c.2402T>C NP_079005.3:p.Leu801Pro
NM_024729.4:c.2402T>C NP_079005.3:p.Leu801Pro
ENST00000376970.6:c.2402T>C ENSP00000366169.3:p.Leu801Pro
ENST00000425460.5:c.2426T>C ENSP00000407879.1:p.Leu809Pro
ENST00000425460.6:c.2426T>C ENSP00000407879.1:p.Leu809Pro
ENST00000440075.6:c.-728+11821T>C ENSP00000406273.3:n.-728+11821T>C
ENST00000596571.5:c.2402T>C ENSP00000472819.1:p.Leu801Pro
ENST00000598205.5:c.2426T>C ENSP00000472543.1:p.Leu809Pro
ENST00000599920.5:c.2426T>C ENSP00000469573.1:p.Leu809Pro
ENST00000601313.5:c.2525T>C ENSP00000470298.1:p.Leu842Pro
XM_006723386.2:c.2426T>C XP_006723449.1:p.Leu809Pro
XM_006723386.4:c.2426T>C XP_006723449.1:p.Leu809Pro
XM_011527320.1:c.2546T>C XP_011525622.1:p.Leu849Pro
XM_011527320.2:c.2546T>C XP_011525622.1:p.Leu849Pro
XM_011527321.1:c.2522T>C XP_011525623.1:p.Leu841Pro
XM_011527321.2:c.2522T>C XP_011525623.1:p.Leu841Pro
XM_011527322.1:c.2450T>C XP_011525624.1:p.Leu817Pro
XM_011527323.1:c.2426T>C XP_011525625.1:p.Leu809Pro
XM_011527323.2:c.2426T>C XP_011525625.1:p.Leu809Pro
XM_024451721.1:c.2402T>C XP_024307489.1:p.Leu801Pro