Canonical Allele Identifier: CA344178791

Gene: PKP1

Linked Data

• gnomAD v4: 1-201317773-C-A
• MyVariant Identifiers: chr1:g.201286901C>A (hg19) ; chr1:g.201317773C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317773C>A , CM000663.2:g.201317773C>A	GRCh38
NC_000001.10:g.201286901C>A , CM000663.1:g.201286901C>A	GRCh37
NC_000001.9:g.199553524C>A	NCBI36
NG_023337.1:g.39322C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1048C>A MANE Select	ENSP00000356293.4:p.Leu350Met
ENST00000263946.7:c.1048C>A	ENSP00000263946.3:p.Leu350Met
ENST00000352845.3:c.1048C>A	ENSP00000295597.3:p.Leu350Met
ENST00000367324.7:c.1048C>A	ENSP00000356293.3:p.Leu350Met
ENST00000475988.1:n.390C>A
ENST00000622031.4:c.1045C>A	ENSP00000482213.1:p.Leu349Met
NM_000299.3:c.1048C>A	NP_000290.2:p.Leu350Met
NM_001005337.2:c.1048C>A	NP_001005337.1:p.Leu350Met
NM_001005337.3:c.1048C>A MANE Select	NP_001005337.1:p.Leu350Met
NM_000299.4:c.1048C>A	NP_000290.2:p.Leu350Met