Canonical Allele Identifier: CA354649276

Gene: PCCB

Linked Data

• dbSNP Id: rs121964961
• gnomAD v2: 3-136046480-A-T
• gnomAD v4: 3-136327638-A-T
• MyVariant Identifiers: chr3:g.136046480A>T (hg19) ; chr3:g.136327638A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327638A>T , CM000665.2:g.136327638A>T	GRCh38
NC_000003.11:g.136046480A>T , CM000665.1:g.136046480A>T	GRCh37
NC_000003.10:g.137529170A>T	NCBI36
NG_008939.1:g.82314A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1304A>T MANE Select	ENSP00000251654.4:p.Tyr435Phe
ENST00000251654.8:c.1304A>T	ENSP00000251654.4:p.Tyr435Phe
ENST00000462637.5:c.1235A>T	ENSP00000420391.1:p.Tyr412Phe
ENST00000466072.5:c.1364A>T	ENSP00000420158.1:p.Tyr455Phe
ENST00000468777.5:c.1397A>T	ENSP00000419129.1:p.Tyr466Phe
ENST00000469217.5:c.1364A>T	ENSP00000419027.1:p.Tyr455Phe
ENST00000471595.5:c.1304A>T	ENSP00000417549.1:p.Tyr435Phe
ENST00000473073.1:n.1505A>T
ENST00000474833.5:n.828A>T
ENST00000478469.5:c.885-6642A>T	ENSP00000420759.1:n.885-6642A>T
ENST00000482086.5:c.956A>T	ENSP00000417253.1:p.Tyr319Phe
ENST00000483687.5:c.1247A>T	ENSP00000420639.1:p.Tyr416Phe
ENST00000484181.5:c.1203A>T	ENSP00000417937.1:p.Leu401=
ENST00000490504.5:c.1133A>T	ENSP00000418307.1:p.Tyr378Phe
NM_000532.4:c.1304A>T	NP_000523.2:p.Tyr435Phe
NM_001178014.1:c.1364A>T	NP_001171485.1:p.Tyr455Phe
NM_000532.5:c.1304A>T MANE Select	NP_000523.2:p.Tyr435Phe
NM_001178014.2:c.1364A>T	NP_001171485.1:p.Tyr455Phe