Canonical Allele Identifier: CA343772232

Gene: SERPINC1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1339G>C MANE Select	ENSP00000356671.3:p.Val447Leu
ENST00000367698.3:c.1339G>C	ENSP00000356671.3:p.Val447Leu
ENST00000617423.4:c.724G>C	ENSP00000478688.1:p.Val242Leu
NM_000488.3:c.1339G>C , LRG_577t1:c.1339G>C	NP_000479.1:p.Val447Leu
XM_005245198.2:c.1195G>C	XP_005245255.1:p.Val399Leu
NM_001365052.1:c.1195G>C	NP_001351981.1:p.Val399Leu
NM_000488.4:c.1339G>C MANE Select	NP_000479.1:p.Val447Leu
NM_001365052.2:c.1195G>C	NP_001351981.1:p.Val399Leu
NM_001386302.1:c.1462G>C	NP_001373231.1:p.Val488Leu
NM_001386303.1:c.1420G>C	NP_001373232.1:p.Val474Leu
NM_001386304.1:c.1318G>C	NP_001373233.1:p.Val440Leu
NM_001386305.1:c.1282G>C	NP_001373234.1:p.Val428Leu
NM_001386306.1:c.1123G>C	NP_001373235.1:p.Val375Leu