Canonical Allele Identifier: CA405896940

Gene: PRX

Linked Data

• MyVariant Identifiers: chr19:g.40902127A>G (hg19) ; chr19:g.40396220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396220A>G , CM000681.2:g.40396220A>G	GRCh38
NC_000019.9:g.40902127A>G , CM000681.1:g.40902127A>G	GRCh37
NC_000019.8:g.45593967A>G	NCBI36
NG_007979.1:g.22145T>C , LRG_265:g.22145T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2132T>C MANE Select	ENSP00000326018.6:p.Leu711Pro
ENST00000673881.1:c.1715T>C	ENSP00000501070.1:p.Leu572Pro
ENST00000674005.2:c.2417T>C	ENSP00000501261.1:p.Leu806Pro
ENST00000674773.1:c.1715T>C	ENSP00000502579.1:p.Leu572Pro
ENST00000675517.1:c.2007T>C
ENST00000676076.1:c.1993T>C
ENST00000676260.1:c.2094T>C
ENST00000676316.1:c.2019T>C
ENST00000291825.11:c.*2337T>C	ENSP00000291825.6:n.*2337T>C
ENST00000324001.7:c.2132T>C	ENSP00000326018.6:p.Leu711Pro
NM_020956.2:c.*2337T>C , LRG_265t1:c.*2337T>C	NP_066007.1:n.*2337T>C
NM_181882.2:c.2132T>C , LRG_265t2:c.2132T>C	NP_870998.2:p.Leu711Pro
XM_011527171.1:c.2132T>C	XP_011525473.1:p.Leu711Pro
XM_011527171.2:c.2132T>C	XP_011525473.1:p.Leu711Pro
XM_017027046.1:c.2030T>C	XP_016882535.1:p.Leu677Pro
XM_017027047.1:c.2030T>C	XP_016882536.1:p.Leu677Pro
NM_181882.3:c.2132T>C MANE Select	NP_870998.2:p.Leu711Pro