Canonical Allele Identifier: CA354644489

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136297979A>G , CM000665.2:g.136297979A>G	GRCh38
NC_000003.11:g.136016821A>G , CM000665.1:g.136016821A>G	GRCh37
NC_000003.10:g.137499511A>G	NCBI36
NG_008939.1:g.52655A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.791A>G MANE Select	NP_000523.2:p.Asp264Gly
ENST00000251654.9:c.791A>G MANE Select	ENSP00000251654.4:p.Asp264Gly
NM_000532.4:c.791A>G	NP_000523.2:p.Asp264Gly
NM_001178014.1:c.851A>G	NP_001171485.1:p.Asp284Gly
NM_001178014.2:c.851A>G	NP_001171485.1:p.Asp284Gly
ENST00000251654.8:c.791A>G	ENSP00000251654.4:p.Asp264Gly
ENST00000462637.5:c.722A>G	ENSP00000420391.1:p.Asp241Gly
ENST00000466072.5:c.791A>G	ENSP00000420158.1:p.Asp264Gly
ENST00000468777.5:c.884A>G	ENSP00000419129.1:p.Asp295Gly
ENST00000469217.5:c.851A>G	ENSP00000419027.1:p.Asp284Gly
ENST00000471595.5:c.791A>G	ENSP00000417549.1:p.Asp264Gly
ENST00000473073.1:n.748A>G
ENST00000474833.5:n.416A>G
ENST00000475214.5:n.705A>G
ENST00000478469.5:c.791A>G	ENSP00000420759.1:p.Asp264Gly
ENST00000482086.5:c.443A>G	ENSP00000417253.1:p.Asp148Gly
ENST00000483687.5:c.734A>G	ENSP00000420639.1:p.Asp245Gly
ENST00000484181.5:c.791A>G	ENSP00000417937.1:p.Asp264Gly
ENST00000490504.5:c.620A>G	ENSP00000418307.1:p.Asp207Gly
XM_011512873.1:c.791A>G	XP_011511175.1:p.Asp264Gly
XM_011512873.2:c.791A>G	XP_011511175.1:p.Asp264Gly