Canonical Allele Identifier: CA1053911426

Gene: PCCB

Linked Data

• dbSNP Id: rs1941844953
• gnomAD v3: 3-136262135-G-T
• gnomAD v4: 3-136262135-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262135G>T , CM000665.2:g.136262135G>T	GRCh38
NC_000003.11:g.135980977G>T , CM000665.1:g.135980977G>T	GRCh37
NC_000003.10:g.137463667G>T	NCBI36
NG_008939.1:g.16811G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+70G>T MANE Select	ENSP00000251654.4:n.543+70G>T
ENST00000251654.8:c.543+70G>T	ENSP00000251654.4:n.543+70G>T
ENST00000459873.1:c.294+70G>T	ENSP00000419293.1:n.294+70G>T
ENST00000462542.5:c.410+70G>T
ENST00000462637.5:c.474+70G>T	ENSP00000420391.1:n.474+70G>T
ENST00000465176.5:n.505+70G>T
ENST00000466072.5:c.543+70G>T	ENSP00000420158.1:n.543+70G>T
ENST00000468777.5:c.636+70G>T	ENSP00000419129.1:n.636+70G>T
ENST00000469217.5:c.603+70G>T	ENSP00000419027.1:n.603+70G>T
ENST00000471595.5:c.543+70G>T	ENSP00000417549.1:n.543+70G>T
ENST00000473073.1:n.500+70G>T
ENST00000474833.5:n.168+11577G>T
ENST00000475214.5:n.457+70G>T
ENST00000478469.5:c.543+70G>T	ENSP00000420759.1:n.543+70G>T
ENST00000482086.5:c.195+70G>T	ENSP00000417253.1:n.195+70G>T
ENST00000483687.5:c.486+70G>T	ENSP00000420639.1:n.486+70G>T
ENST00000484181.5:c.543+70G>T	ENSP00000417937.1:n.543+70G>T
ENST00000490504.5:c.372+5512G>T	ENSP00000418307.1:n.372+5512G>T
NM_000532.4:c.543+70G>T	NP_000523.2:n.543+70G>T
NM_001178014.1:c.603+70G>T	NP_001171485.1:n.603+70G>T
XM_011512873.1:c.543+70G>T	XP_011511175.1:n.543+70G>T
XM_011512873.2:c.543+70G>T	XP_011511175.1:n.543+70G>T
NM_000532.5:c.543+70G>T MANE Select	NP_000523.2:n.543+70G>T
NM_001178014.2:c.603+70G>T	NP_001171485.1:n.603+70G>T