Canonical Allele Identifier: CA1206206713

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707436G= , CM000663.2:g.169707436G= GRCh38
NC_000001.10:g.169676577G= , CM000663.1:g.169676577G= GRCh37
NC_000001.9:g.167943201G= NCBI36
NG_016132.1:g.9267C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.486C= (SELL) MANE Select ENSP00000236147.5:p.Pro162=
ENST00000650983.1:c.525C= (SELL) ENSP00000498227.1:p.Pro175=
ENST00000236147.4:c.525C= (SELL) ENSP00000236147.4:p.Pro175=
ENST00000463108.5:n.686C= (SELL)
ENST00000466340.1:n.498C= (SELL)
ENST00000479657.5:n.238C= (SELL)
ENST00000498289.5:n.851+23504G= (FIRRM)
NM_000655.4:c.525C= (SELL) NP_000646.2:p.Pro175=
NR_029467.1:n.454C= (SELL)
NM_000655.5:c.486C= (SELL) MANE Select NP_000646.3:p.Pro162=
NR_029467.2:n.455C= (SELL)