Canonical Allele Identifier: CA354739944

Gene: PCCB

Linked Data

• dbSNP Id: rs1941842297
• gnomAD v4: 3-136262042-G-T
• MyVariant Identifiers: chr3:g.135980884G>T (hg19) ; chr3:g.136262042G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262042G>T , CM000665.2:g.136262042G>T	GRCh38
NC_000003.11:g.135980884G>T , CM000665.1:g.135980884G>T	GRCh37
NC_000003.10:g.137463574G>T	NCBI36
NG_008939.1:g.16718G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.520G>T MANE Select	ENSP00000251654.4:p.Ala174Ser
ENST00000251654.8:c.520G>T	ENSP00000251654.4:p.Ala174Ser
ENST00000459873.1:c.271G>T	ENSP00000419293.1:p.Ala91Ser
ENST00000462542.5:c.387G>T
ENST00000462637.5:c.451G>T	ENSP00000420391.1:p.Ala151Ser
ENST00000465176.5:n.482G>T
ENST00000466072.5:c.520G>T	ENSP00000420158.1:p.Ala174Ser
ENST00000468777.5:c.613G>T	ENSP00000419129.1:p.Ala205Ser
ENST00000469217.5:c.580G>T	ENSP00000419027.1:p.Ala194Ser
ENST00000471595.5:c.520G>T	ENSP00000417549.1:p.Ala174Ser
ENST00000473073.1:n.477G>T
ENST00000474833.5:n.168+11484G>T
ENST00000475214.5:n.434G>T
ENST00000478469.5:c.520G>T	ENSP00000420759.1:p.Ala174Ser
ENST00000482086.5:c.172G>T	ENSP00000417253.1:p.Ala58Ser
ENST00000483687.5:c.463G>T	ENSP00000420639.1:p.Ala155Ser
ENST00000484181.5:c.520G>T	ENSP00000417937.1:p.Ala174Ser
ENST00000490504.5:c.372+5419G>T	ENSP00000418307.1:n.372+5419G>T
NM_000532.4:c.520G>T	NP_000523.2:p.Ala174Ser
NM_001178014.1:c.580G>T	NP_001171485.1:p.Ala194Ser
XM_011512873.1:c.520G>T	XP_011511175.1:p.Ala174Ser
XM_011512873.2:c.520G>T	XP_011511175.1:p.Ala174Ser
NM_000532.5:c.520G>T MANE Select	NP_000523.2:p.Ala174Ser
NM_001178014.2:c.580G>T	NP_001171485.1:p.Ala194Ser