Canonical Allele Identifier: CA343772230

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873083C>T (hg19) ; chr1:g.173903945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903945C>T , CM000663.2:g.173903945C>T	GRCh38
NC_000001.10:g.173873083C>T , CM000663.1:g.173873083C>T	GRCh37
NC_000001.9:g.172139706C>T	NCBI36
NG_012462.1:g.18434G>A , LRG_577:g.18434G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1339G>A MANE Select	ENSP00000356671.3:p.Val447Ile
ENST00000367698.3:c.1339G>A	ENSP00000356671.3:p.Val447Ile
ENST00000617423.4:c.724G>A	ENSP00000478688.1:p.Val242Ile
NM_000488.3:c.1339G>A , LRG_577t1:c.1339G>A	NP_000479.1:p.Val447Ile
XM_005245198.2:c.1195G>A	XP_005245255.1:p.Val399Ile
NM_001365052.1:c.1195G>A	NP_001351981.1:p.Val399Ile
NM_000488.4:c.1339G>A MANE Select	NP_000479.1:p.Val447Ile
NM_001365052.2:c.1195G>A	NP_001351981.1:p.Val399Ile
NM_001386302.1:c.1462G>A	NP_001373231.1:p.Val488Ile
NM_001386303.1:c.1420G>A	NP_001373232.1:p.Val474Ile
NM_001386304.1:c.1318G>A	NP_001373233.1:p.Val440Ile
NM_001386305.1:c.1282G>A	NP_001373234.1:p.Val428Ile
NM_001386306.1:c.1123G>A	NP_001373235.1:p.Val375Ile