Canonical Allele Identifier: CA343774540

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 1684312
• ClinVar RCV Id: RCV002245318
• dbSNP Id: rs1572088737
• MyVariant Identifiers: chr1:g.173878992A>C (hg19) ; chr1:g.173909854A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909854A>C , CM000663.2:g.173909854A>C	GRCh38
NC_000001.10:g.173878992A>C , CM000663.1:g.173878992A>C	GRCh37
NC_000001.9:g.172145615A>C	NCBI36
NG_012462.1:g.12525T>G , LRG_577:g.12525T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.851T>G MANE Select	ENSP00000356671.3:p.Met284Arg
ENST00000367698.3:c.851T>G	ENSP00000356671.3:p.Met284Arg
ENST00000487183.1:n.502T>G
ENST00000617423.4:c.559+2010T>G	ENSP00000478688.1:n.559+2010T>G
NM_000488.3:c.851T>G , LRG_577t1:c.851T>G	NP_000479.1:p.Met284Arg
XM_005245198.2:c.707T>G	XP_005245255.1:p.Met236Arg
NM_001365052.1:c.707T>G	NP_001351981.1:p.Met236Arg
NM_000488.4:c.851T>G MANE Select	NP_000479.1:p.Met284Arg
NM_001365052.2:c.707T>G	NP_001351981.1:p.Met236Arg
NM_001386302.1:c.974T>G	NP_001373231.1:p.Met325Arg
NM_001386303.1:c.932T>G	NP_001373232.1:p.Met311Arg
NM_001386304.1:c.830T>G	NP_001373233.1:p.Met277Arg
NM_001386305.1:c.794T>G	NP_001373234.1:p.Met265Arg
NM_001386306.1:c.635T>G	NP_001373235.1:p.Met212Arg