Canonical Allele Identifier: CA343771973

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2073944
• ClinVar RCV Id: RCV002975940
• MyVariant Identifiers: chr1:g.173873027T>G (hg19) ; chr1:g.173903889T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903889T>G , CM000663.2:g.173903889T>G	GRCh38
NC_000001.10:g.173873027T>G , CM000663.1:g.173873027T>G	GRCh37
NC_000001.9:g.172139650T>G	NCBI36
NG_012462.1:g.18490A>C , LRG_577:g.18490A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1395A>C MANE Select	ENSP00000356671.3:p.Ter465Tyr
ENST00000367698.3:c.1395A>C	ENSP00000356671.3:p.Ter465Tyr
ENST00000617423.4:c.780A>C	ENSP00000478688.1:p.Ter260Tyr
NM_000488.3:c.1395A>C , LRG_577t1:c.1395A>C	NP_000479.1:p.Ter465Tyr
XM_005245198.2:c.1251A>C	XP_005245255.1:p.Ter417Tyr
NM_001365052.1:c.1251A>C	NP_001351981.1:p.Ter417Tyr
NM_000488.4:c.1395A>C MANE Select	NP_000479.1:p.Ter465Tyr
NM_001365052.2:c.1251A>C	NP_001351981.1:p.Ter417Tyr
NM_001386302.1:c.1518A>C	NP_001373231.1:p.Ter506Tyr
NM_001386303.1:c.1476A>C	NP_001373232.1:p.Ter492Tyr
NM_001386304.1:c.1374A>C	NP_001373233.1:p.Ter458Tyr
NM_001386305.1:c.1338A>C	NP_001373234.1:p.Ter446Tyr
NM_001386306.1:c.1179A>C	NP_001373235.1:p.Ter393Tyr