Canonical Allele Identifier: CA343773892

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2961882
• ClinVar RCV Id: RCV003822528
• MyVariant Identifiers: chr1:g.173878836A>G (hg19) ; chr1:g.173909698A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909698A>G , CM000663.2:g.173909698A>G	GRCh38
NC_000001.10:g.173878836A>G , CM000663.1:g.173878836A>G	GRCh37
NC_000001.9:g.172145459A>G	NCBI36
NG_012462.1:g.12681T>C , LRG_577:g.12681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1007T>C MANE Select	ENSP00000356671.3:p.Leu336Pro
ENST00000367698.3:c.1007T>C	ENSP00000356671.3:p.Leu336Pro
ENST00000617423.4:c.559+2166T>C	ENSP00000478688.1:n.559+2166T>C
NM_000488.3:c.1007T>C , LRG_577t1:c.1007T>C	NP_000479.1:p.Leu336Pro
XM_005245198.2:c.863T>C	XP_005245255.1:p.Leu288Pro
NM_001365052.1:c.863T>C	NP_001351981.1:p.Leu288Pro
NM_000488.4:c.1007T>C MANE Select	NP_000479.1:p.Leu336Pro
NM_001365052.2:c.863T>C	NP_001351981.1:p.Leu288Pro
NM_001386302.1:c.1130T>C	NP_001373231.1:p.Leu377Pro
NM_001386303.1:c.1088T>C	NP_001373232.1:p.Leu363Pro
NM_001386304.1:c.986T>C	NP_001373233.1:p.Leu329Pro
NM_001386305.1:c.950T>C	NP_001373234.1:p.Leu317Pro
NM_001386306.1:c.791T>C	NP_001373235.1:p.Leu264Pro