Canonical Allele Identifier: CA387802005

Gene: POMP

Linked Data

• MyVariant Identifiers: chr13:g.29233322A>G (hg19) ; chr13:g.28659185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659185A>G , CM000675.2:g.28659185A>G	GRCh38
NC_000013.10:g.29233322A>G , CM000675.1:g.29233322A>G	GRCh37
NC_000013.9:g.28131322A>G	NCBI36
NG_027550.1:g.5182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-248A>G	ENSP00000513386.1:n.-248A>G
ENST00000697662.1:c.-284A>G	ENSP00000513387.1:n.-284A>G
ENST00000697716.1:c.-85A>G	ENSP00000513414.1:n.-85A>G
ENST00000697717.1:c.1A>G	ENSP00000513415.1:p.Met1Val
ENST00000697718.1:c.1A>G	ENSP00000513416.1:p.Met1Val
ENST00000380842.5:c.1A>G MANE Select	ENSP00000370222.4:p.Met1Val
ENST00000380842.4:c.1A>G	ENSP00000370222.4:p.Met1Val
ENST00000460403.1:n.82A>G
NM_015932.5:c.1A>G	NP_057016.1:p.Met1Val
NM_015932.6:c.1A>G MANE Select	NP_057016.1:p.Met1Val