Canonical Allele Identifier: CA343774217

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909777-C-A
• MyVariant Identifiers: chr1:g.173878915C>A (hg19) ; chr1:g.173909777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909777C>A , CM000663.2:g.173909777C>A	GRCh38
NC_000001.10:g.173878915C>A , CM000663.1:g.173878915C>A	GRCh37
NC_000001.9:g.172145538C>A	NCBI36
NG_012462.1:g.12602G>T , LRG_577:g.12602G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.928G>T MANE Select	ENSP00000356671.3:p.Asp310Tyr
ENST00000367698.3:c.928G>T	ENSP00000356671.3:p.Asp310Tyr
ENST00000487183.1:n.579G>T
ENST00000617423.4:c.559+2087G>T	ENSP00000478688.1:n.559+2087G>T
NM_000488.3:c.928G>T , LRG_577t1:c.928G>T	NP_000479.1:p.Asp310Tyr
XM_005245198.2:c.784G>T	XP_005245255.1:p.Asp262Tyr
NM_001365052.1:c.784G>T	NP_001351981.1:p.Asp262Tyr
NM_000488.4:c.928G>T MANE Select	NP_000479.1:p.Asp310Tyr
NM_001365052.2:c.784G>T	NP_001351981.1:p.Asp262Tyr
NM_001386302.1:c.1051G>T	NP_001373231.1:p.Asp351Tyr
NM_001386303.1:c.1009G>T	NP_001373232.1:p.Asp337Tyr
NM_001386304.1:c.907G>T	NP_001373233.1:p.Asp303Tyr
NM_001386305.1:c.871G>T	NP_001373234.1:p.Asp291Tyr
NM_001386306.1:c.712G>T	NP_001373235.1:p.Asp238Tyr