Canonical Allele Identifier: CA343774474

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909840-T-G
• MyVariant Identifiers: chr1:g.173878978T>G (hg19) ; chr1:g.173909840T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909840T>G , CM000663.2:g.173909840T>G	GRCh38
NC_000001.10:g.173878978T>G , CM000663.1:g.173878978T>G	GRCh37
NC_000001.9:g.172145601T>G	NCBI36
NG_012462.1:g.12539A>C , LRG_577:g.12539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.865A>C MANE Select	ENSP00000356671.3:p.Lys289Gln
ENST00000367698.3:c.865A>C	ENSP00000356671.3:p.Lys289Gln
ENST00000487183.1:n.516A>C
ENST00000617423.4:c.559+2024A>C	ENSP00000478688.1:n.559+2024A>C
NM_000488.3:c.865A>C , LRG_577t1:c.865A>C	NP_000479.1:p.Lys289Gln
XM_005245198.2:c.721A>C	XP_005245255.1:p.Lys241Gln
NM_001365052.1:c.721A>C	NP_001351981.1:p.Lys241Gln
NM_000488.4:c.865A>C MANE Select	NP_000479.1:p.Lys289Gln
NM_001365052.2:c.721A>C	NP_001351981.1:p.Lys241Gln
NM_001386302.1:c.988A>C	NP_001373231.1:p.Lys330Gln
NM_001386303.1:c.946A>C	NP_001373232.1:p.Lys316Gln
NM_001386304.1:c.844A>C	NP_001373233.1:p.Lys282Gln
NM_001386305.1:c.808A>C	NP_001373234.1:p.Lys270Gln
NM_001386306.1:c.649A>C	NP_001373235.1:p.Lys217Gln