Canonical Allele Identifier: CA4405695

Gene: SERPINE1

Linked Data

• ClinVar Variation Id: 1246591
• ClinVar RCV Id: RCV001641946
• dbSNP Id: rs2227684
• ExAC: 7:100776931 G / A
• gnomAD v2: 7-100776931-G-A
• gnomAD v3: 7-101133650-G-A
• gnomAD v4: 7-101133650-G-A
• MyVariant Identifiers: chr7:g.100776931G>A (hg19) ; chr7:g.101133650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101133650G>A , CM000669.2:g.101133650G>A	GRCh38
NC_000007.13:g.100776931G>A , CM000669.1:g.100776931G>A	GRCh37
NC_000007.12:g.100563651G>A	NCBI36
NG_013213.1:g.11553G>A , LRG_597:g.11553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223095.5:c.701-45G>A MANE Select	ENSP00000223095.4:n.701-45G>A
ENST00000223095.4:c.701-45G>A	ENSP00000223095.4:n.701-45G>A
NM_000602.4:c.701-45G>A , LRG_597t1:c.701-45G>A	NP_000593.1:n.701-45G>A
NM_000602.5:c.701-45G>A MANE Select	NP_000593.1:n.701-45G>A
NM_001386456.1:c.449-45G>A	NP_001373385.1:n.449-45G>A
NM_001386457.1:c.701-45G>A	NP_001373386.1:n.701-45G>A
NM_001386458.1:c.701-45G>A	NP_001373387.1:n.701-45G>A
NM_001386459.1:c.701-45G>A	NP_001373388.1:n.701-45G>A
NM_001386460.1:c.701-45G>A	NP_001373389.1:n.701-45G>A
NM_001386461.1:c.701-45G>A	NP_001373390.1:n.701-45G>A
NM_001386462.1:c.500-45G>A	NP_001373391.1:n.500-45G>A
NM_001386463.1:c.695-45G>A	NP_001373392.1:n.695-45G>A
NM_001386464.1:c.701-45G>A	NP_001373393.1:n.701-45G>A
NM_001386465.1:c.701-45G>A	NP_001373394.1:n.701-45G>A
NM_001386466.1:c.725-45G>A	NP_001373395.1:n.725-45G>A