Canonical Allele Identifier: CA368594118
Gene: SERPINE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101128442G>T , CM000669.2:g.101128442G>T GRCh38
NC_000007.13:g.100771723G>T , CM000669.1:g.100771723G>T GRCh37
NC_000007.12:g.100558443G>T NCBI36
NG_013213.1:g.6345G>T , LRG_597:g.6345G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000223095.5:c.49G>T MANE Select ENSP00000223095.4:p.Val17Phe
ENST00000223095.4:c.49G>T ENSP00000223095.4:p.Val17Phe
NM_000602.4:c.49G>T , LRG_597t1:c.49G>T NP_000593.1:p.Val17Phe
NM_000602.5:c.49G>T MANE Select NP_000593.1:p.Val17Phe
NM_001386456.1:c.-32-172G>T NP_001373385.1:n.-32-172G>T
NM_001386457.1:c.49G>T NP_001373386.1:p.Val17Phe
NM_001386458.1:c.49G>T NP_001373387.1:p.Val17Phe
NM_001386459.1:c.49G>T NP_001373388.1:p.Val17Phe
NM_001386460.1:c.49G>T NP_001373389.1:p.Val17Phe
NM_001386461.1:c.49G>T NP_001373390.1:p.Val17Phe
NM_001386462.1:c.-69-84G>T NP_001373391.1:n.-69-84G>T
NM_001386463.1:c.43G>T NP_001373392.1:p.Val15Phe
NM_001386464.1:c.49G>T NP_001373393.1:p.Val17Phe
NM_001386465.1:c.49G>T NP_001373394.1:p.Val17Phe
NM_001386466.1:c.49G>T NP_001373395.1:p.Val17Phe