Canonical Allele Identifier: CA405898936

Gene: PRX

Linked Data

• MyVariant Identifiers: chr19:g.40903088G>C (hg19) ; chr19:g.40397181G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397181G>C , CM000681.2:g.40397181G>C	GRCh38
NC_000019.9:g.40903088G>C , CM000681.1:g.40903088G>C	GRCh37
NC_000019.8:g.45594928G>C	NCBI36
NG_007979.1:g.21184C>G , LRG_265:g.21184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1171C>G MANE Select	ENSP00000326018.6:p.Leu391Val
ENST00000673881.1:c.754C>G	ENSP00000501070.1:p.Leu252Val
ENST00000674005.2:c.1456C>G	ENSP00000501261.1:p.Leu486Val
ENST00000674773.1:c.754C>G	ENSP00000502579.1:p.Leu252Val
ENST00000675517.1:c.1046C>G
ENST00000676076.1:c.1032C>G
ENST00000676260.1:c.1133C>G
ENST00000676316.1:c.1058C>G
ENST00000291825.11:c.*1376C>G	ENSP00000291825.6:n.*1376C>G
ENST00000324001.7:c.1171C>G	ENSP00000326018.6:p.Leu391Val
NM_020956.2:c.*1376C>G , LRG_265t1:c.*1376C>G	NP_066007.1:n.*1376C>G
NM_181882.2:c.1171C>G , LRG_265t2:c.1171C>G	NP_870998.2:p.Leu391Val
XM_011527171.1:c.1171C>G	XP_011525473.1:p.Leu391Val
XM_011527171.2:c.1171C>G	XP_011525473.1:p.Leu391Val
XM_017027046.1:c.1069C>G	XP_016882535.1:p.Leu357Val
XM_017027047.1:c.1069C>G	XP_016882536.1:p.Leu357Val
NM_181882.3:c.1171C>G MANE Select	NP_870998.2:p.Leu391Val