Canonical Allele Identifier: CA343772311

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873097A>G (hg19) ; chr1:g.173903959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903959A>G , CM000663.2:g.173903959A>G	GRCh38
NC_000001.10:g.173873097A>G , CM000663.1:g.173873097A>G	GRCh37
NC_000001.9:g.172139720A>G	NCBI36
NG_012462.1:g.18420T>C , LRG_577:g.18420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1325T>C MANE Select	ENSP00000356671.3:p.Val442Ala
ENST00000367698.3:c.1325T>C	ENSP00000356671.3:p.Val442Ala
ENST00000617423.4:c.710T>C	ENSP00000478688.1:p.Val237Ala
NM_000488.3:c.1325T>C , LRG_577t1:c.1325T>C	NP_000479.1:p.Val442Ala
XM_005245198.2:c.1181T>C	XP_005245255.1:p.Val394Ala
NM_001365052.1:c.1181T>C	NP_001351981.1:p.Val394Ala
NM_000488.4:c.1325T>C MANE Select	NP_000479.1:p.Val442Ala
NM_001365052.2:c.1181T>C	NP_001351981.1:p.Val394Ala
NM_001386302.1:c.1448T>C	NP_001373231.1:p.Val483Ala
NM_001386303.1:c.1406T>C	NP_001373232.1:p.Val469Ala
NM_001386304.1:c.1304T>C	NP_001373233.1:p.Val435Ala
NM_001386305.1:c.1268T>C	NP_001373234.1:p.Val423Ala
NM_001386306.1:c.1109T>C	NP_001373235.1:p.Val370Ala