Canonical Allele Identifier: CA343776281

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2734042
• ClinVar RCV Id: RCV003527189
• MyVariant Identifiers: chr1:g.173880981T>G (hg19) ; chr1:g.173911843T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911843T>G , CM000663.2:g.173911843T>G	GRCh38
NC_000001.10:g.173880981T>G , CM000663.1:g.173880981T>G	GRCh37
NC_000001.9:g.172147604T>G	NCBI36
NG_012462.1:g.10536A>C , LRG_577:g.10536A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.580A>C MANE Select	ENSP00000356671.3:p.Ser194Arg
ENST00000367698.3:c.580A>C	ENSP00000356671.3:p.Ser194Arg
ENST00000487183.1:n.285A>C
ENST00000617423.4:c.559+21A>C	ENSP00000478688.1:n.559+21A>C
NM_000488.3:c.580A>C , LRG_577t1:c.580A>C	NP_000479.1:p.Ser194Arg
XM_005245198.2:c.436A>C	XP_005245255.1:p.Ser146Arg
NM_001365052.1:c.436A>C	NP_001351981.1:p.Ser146Arg
NM_000488.4:c.580A>C MANE Select	NP_000479.1:p.Ser194Arg
NM_001365052.2:c.436A>C	NP_001351981.1:p.Ser146Arg
NM_001386302.1:c.580A>C	NP_001373231.1:p.Ser194Arg
NM_001386303.1:c.661A>C	NP_001373232.1:p.Ser221Arg
NM_001386304.1:c.580A>C	NP_001373233.1:p.Ser194Arg
NM_001386305.1:c.580A>C	NP_001373234.1:p.Ser194Arg
NM_001386306.1:c.409-952A>C	NP_001373235.1:n.409-952A>C