Canonical Allele Identifier: CA32782378

Gene: SERPINC1

Linked Data

• dbSNP Id: rs986804201
• gnomAD v4: 1-173914915-C-T
• MyVariant Identifiers: chr1:g.173884053C>T (hg19) ; chr1:g.173914915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914915C>T , CM000663.2:g.173914915C>T	GRCh38
NC_000001.10:g.173884053C>T , CM000663.1:g.173884053C>T	GRCh37
NC_000001.9:g.172150676C>T	NCBI36
NG_012462.1:g.7464G>A , LRG_577:g.7464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.46G>A MANE Select	ENSP00000356671.3:p.Val16Ile
ENST00000367698.3:c.46G>A	ENSP00000356671.3:p.Val16Ile
ENST00000494024.1:n.272G>A
ENST00000617423.4:c.46G>A	ENSP00000478688.1:p.Val16Ile
NM_000488.3:c.46G>A , LRG_577t1:c.46G>A	NP_000479.1:p.Val16Ile
XM_005245198.2:c.-99G>A	XP_005245255.1:n.-99G>A
NM_001365052.1:c.-99G>A	NP_001351981.1:n.-99G>A
NM_000488.4:c.46G>A MANE Select	NP_000479.1:p.Val16Ile
NM_001365052.2:c.-99G>A	NP_001351981.1:n.-99G>A
NM_001386302.1:c.46G>A	NP_001373231.1:p.Val16Ile
NM_001386303.1:c.127G>A	NP_001373232.1:p.Val43Ile
NM_001386304.1:c.46G>A	NP_001373233.1:p.Val16Ile
NM_001386305.1:c.46G>A	NP_001373234.1:p.Val16Ile
NM_001386306.1:c.46G>A	NP_001373235.1:p.Val16Ile