Canonical Allele Identifier: CA343774222

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878916A>C (hg19) ; chr1:g.173909778A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909778A>C , CM000663.2:g.173909778A>C	GRCh38
NC_000001.10:g.173878916A>C , CM000663.1:g.173878916A>C	GRCh37
NC_000001.9:g.172145539A>C	NCBI36
NG_012462.1:g.12601T>G , LRG_577:g.12601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.927T>G MANE Select	ENSP00000356671.3:p.Asp309Glu
ENST00000367698.3:c.927T>G	ENSP00000356671.3:p.Asp309Glu
ENST00000487183.1:n.578T>G
ENST00000617423.4:c.559+2086T>G	ENSP00000478688.1:n.559+2086T>G
NM_000488.3:c.927T>G , LRG_577t1:c.927T>G	NP_000479.1:p.Asp309Glu
XM_005245198.2:c.783T>G	XP_005245255.1:p.Asp261Glu
NM_001365052.1:c.783T>G	NP_001351981.1:p.Asp261Glu
NM_000488.4:c.927T>G MANE Select	NP_000479.1:p.Asp309Glu
NM_001365052.2:c.783T>G	NP_001351981.1:p.Asp261Glu
NM_001386302.1:c.1050T>G	NP_001373231.1:p.Asp350Glu
NM_001386303.1:c.1008T>G	NP_001373232.1:p.Asp336Glu
NM_001386304.1:c.906T>G	NP_001373233.1:p.Asp302Glu
NM_001386305.1:c.870T>G	NP_001373234.1:p.Asp290Glu
NM_001386306.1:c.711T>G	NP_001373235.1:p.Asp237Glu