Canonical Allele Identifier: CA1251415

Gene: SERPINC1

Linked Data

• dbSNP Id: rs746430769
• ExAC: 1:173881139 T / A
• gnomAD v2: 1-173881139-T-A
• MyVariant Identifiers: chr1:g.173881139T>A (hg19) ; chr1:g.173912001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173912001T>A , CM000663.2:g.173912001T>A	GRCh38
NC_000001.10:g.173881139T>A , CM000663.1:g.173881139T>A	GRCh37
NC_000001.9:g.172147762T>A	NCBI36
NG_012462.1:g.10378A>T , LRG_577:g.10378A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.422A>T MANE Select	ENSP00000356671.3:p.Asp141Val
ENST00000367698.3:c.422A>T	ENSP00000356671.3:p.Asp141Val
ENST00000487183.1:n.127A>T
ENST00000494024.1:n.648A>T
ENST00000617423.4:c.422A>T	ENSP00000478688.1:p.Asp141Val
NM_000488.3:c.422A>T , LRG_577t1:c.422A>T	NP_000479.1:p.Asp141Val
XM_005245198.2:c.278A>T	XP_005245255.1:p.Asp93Val
NM_001365052.1:c.278A>T	NP_001351981.1:p.Asp93Val
NM_000488.4:c.422A>T MANE Select	NP_000479.1:p.Asp141Val
NM_001365052.2:c.278A>T	NP_001351981.1:p.Asp93Val
NM_001386302.1:c.422A>T	NP_001373231.1:p.Asp141Val
NM_001386303.1:c.503A>T	NP_001373232.1:p.Asp168Val
NM_001386304.1:c.422A>T	NP_001373233.1:p.Asp141Val
NM_001386305.1:c.422A>T	NP_001373234.1:p.Asp141Val
NM_001386306.1:c.409-1110A>T	NP_001373235.1:n.409-1110A>T