Canonical Allele Identifier: CA341854200

Gene: PHGDH

Linked Data

• COSMIC: COSM3369227 ; COSM3369228
• MyVariant Identifiers: chr1:g.120286533G>T (hg19) ; chr1:g.119743910G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743910G>T , CM000663.2:g.119743910G>T	GRCh38
NC_000001.10:g.120286533G>T , CM000663.1:g.120286533G>T	GRCh37
NC_000001.9:g.120088056G>T	NCBI36
NG_009188.1:g.37115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1491G>T	ENSP00000358417.5:p.Ala497=
ENST00000641023.2:c.1472G>T MANE Select	ENSP00000493175.1:p.Arg491Leu
ENST00000641074.1:c.*51G>T	ENSP00000493446.1:n.*51G>T
ENST00000641115.1:c.1208G>T	ENSP00000493264.1:p.Arg403Leu
ENST00000641213.1:c.*1125G>T	ENSP00000493079.1:n.*1125G>T
ENST00000641314.1:n.1457G>T
ENST00000641375.1:c.*1308G>T	ENSP00000493089.1:n.*1308G>T
ENST00000641597.1:c.1472G>T	ENSP00000493382.1:p.Arg491Leu
ENST00000641756.1:c.*1216G>T	ENSP00000493147.1:n.*1216G>T
ENST00000641811.1:c.726G>T
ENST00000641891.1:c.*1298G>T	ENSP00000493288.1:n.*1298G>T
ENST00000641927.1:n.1412G>T
ENST00000641947.1:c.1451G>T	ENSP00000492994.1:p.Arg484Leu
ENST00000642021.1:n.2503G>T
ENST00000369407.3:c.1370G>T	ENSP00000358415.3:p.Arg457Leu
ENST00000369409.8:c.1472G>T	ENSP00000358417.4:p.Arg491Leu
ENST00000482968.1:n.1451G>T
NM_006623.3:c.1472G>T	NP_006614.2:p.Arg491Leu
XM_011541226.1:c.1694G>T	XP_011539528.1:p.Arg565Leu
XM_011541227.1:c.1616G>T	XP_011539529.1:p.Arg539Leu
XM_011541228.1:c.1583G>T	XP_011539530.1:p.Arg528Leu
XM_011541229.1:c.1409G>T	XP_011539531.1:p.Arg470Leu
XM_011541230.1:c.1187G>T	XP_011539532.1:p.Arg396Leu
XM_011541231.1:c.1178G>T	XP_011539533.1:p.Arg393Leu
XM_011541226.2:c.1694G>T	XP_011539528.1:p.Arg565Leu
XM_011541227.2:c.1616G>T	XP_011539529.1:p.Arg539Leu
XM_011541228.2:c.1583G>T	XP_011539530.1:p.Arg528Leu
XM_011541231.2:c.1178G>T	XP_011539533.1:p.Arg393Leu
XM_024446338.1:c.1583G>T	XP_024302106.1:p.Arg528Leu
NM_006623.4:c.1472G>T MANE Select	NP_006614.2:p.Arg491Leu