Canonical Allele Identifier: CA84267006

Gene: PCCB

Linked Data

• dbSNP Id: rs943060576
• gnomAD v3: 3-136262171-G-T
• gnomAD v4: 3-136262171-G-T
• MyVariant Identifiers: chr3:g.135981013G>T (hg19) ; chr3:g.136262171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262171G>T , CM000665.2:g.136262171G>T	GRCh38
NC_000003.11:g.135981013G>T , CM000665.1:g.135981013G>T	GRCh37
NC_000003.10:g.137463703G>T	NCBI36
NG_008939.1:g.16847G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+106G>T MANE Select	ENSP00000251654.4:n.543+106G>T
ENST00000251654.8:c.543+106G>T	ENSP00000251654.4:n.543+106G>T
ENST00000459873.1:c.294+106G>T	ENSP00000419293.1:n.294+106G>T
ENST00000462542.5:c.410+106G>T
ENST00000462637.5:c.474+106G>T	ENSP00000420391.1:n.474+106G>T
ENST00000465176.5:n.505+106G>T
ENST00000466072.5:c.543+106G>T	ENSP00000420158.1:n.543+106G>T
ENST00000468777.5:c.636+106G>T	ENSP00000419129.1:n.636+106G>T
ENST00000469217.5:c.603+106G>T	ENSP00000419027.1:n.603+106G>T
ENST00000471595.5:c.543+106G>T	ENSP00000417549.1:n.543+106G>T
ENST00000473073.1:n.500+106G>T
ENST00000474833.5:n.168+11613G>T
ENST00000475214.5:n.457+106G>T
ENST00000478469.5:c.543+106G>T	ENSP00000420759.1:n.543+106G>T
ENST00000482086.5:c.195+106G>T	ENSP00000417253.1:n.195+106G>T
ENST00000483687.5:c.486+106G>T	ENSP00000420639.1:n.486+106G>T
ENST00000484181.5:c.543+106G>T	ENSP00000417937.1:n.543+106G>T
ENST00000490504.5:c.372+5548G>T	ENSP00000418307.1:n.372+5548G>T
NM_000532.4:c.543+106G>T	NP_000523.2:n.543+106G>T
NM_001178014.1:c.603+106G>T	NP_001171485.1:n.603+106G>T
XM_011512873.1:c.543+106G>T	XP_011511175.1:n.543+106G>T
XM_011512873.2:c.543+106G>T	XP_011511175.1:n.543+106G>T
NM_000532.5:c.543+106G>T MANE Select	NP_000523.2:n.543+106G>T
NM_001178014.2:c.603+106G>T	NP_001171485.1:n.603+106G>T