Canonical Allele Identifier: CA341851209

Gene: PHGDH

Linked Data

• COSMIC: COSM3862394 ; COSM3862395
• MyVariant Identifiers: chr1:g.120279789C>T (hg19) ; chr1:g.119737166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737166C>T , CM000663.2:g.119737166C>T	GRCh38
NC_000001.10:g.120279789C>T , CM000663.1:g.120279789C>T	GRCh37
NC_000001.9:g.120081312C>T	NCBI36
NG_009188.1:g.30371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.845C>T	ENSP00000358417.5:p.Pro282Leu
ENST00000641023.2:c.845C>T MANE Select	ENSP00000493175.1:p.Pro282Leu
ENST00000641074.1:c.845C>T	ENSP00000493446.1:p.Pro282Leu
ENST00000641115.1:c.845C>T	ENSP00000493264.1:p.Pro282Leu
ENST00000641213.1:c.*498C>T	ENSP00000493079.1:n.*498C>T
ENST00000641314.1:n.830C>T
ENST00000641375.1:c.*681C>T	ENSP00000493089.1:n.*681C>T
ENST00000641597.1:c.845C>T	ENSP00000493382.1:p.Pro282Leu
ENST00000641756.1:c.*589C>T	ENSP00000493147.1:n.*589C>T
ENST00000641811.1:c.601C>T
ENST00000641891.1:c.*671C>T	ENSP00000493288.1:n.*671C>T
ENST00000641927.1:n.785C>T
ENST00000641947.1:c.845C>T	ENSP00000492994.1:p.Pro282Leu
ENST00000642021.1:n.967C>T
ENST00000369407.3:c.743C>T	ENSP00000358415.3:p.Pro248Leu
ENST00000369409.8:c.845C>T	ENSP00000358417.4:p.Pro282Leu
NM_006623.3:c.845C>T	NP_006614.2:p.Pro282Leu
XM_011541226.1:c.1067C>T	XP_011539528.1:p.Pro356Leu
XM_011541227.1:c.989C>T	XP_011539529.1:p.Pro330Leu
XM_011541228.1:c.956C>T	XP_011539530.1:p.Pro319Leu
XM_011541229.1:c.782C>T	XP_011539531.1:p.Pro261Leu
XM_011541230.1:c.560C>T	XP_011539532.1:p.Pro187Leu
XM_011541231.1:c.551C>T	XP_011539533.1:p.Pro184Leu
XM_011541226.2:c.1067C>T	XP_011539528.1:p.Pro356Leu
XM_011541227.2:c.989C>T	XP_011539529.1:p.Pro330Leu
XM_011541228.2:c.956C>T	XP_011539530.1:p.Pro319Leu
XM_011541231.2:c.551C>T	XP_011539533.1:p.Pro184Leu
XM_024446338.1:c.956C>T	XP_024302106.1:p.Pro319Leu
NM_006623.4:c.845C>T MANE Select	NP_006614.2:p.Pro282Leu