Canonical Allele Identifier: CA343776323

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173880989T>A (hg19) ; chr1:g.173911851T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911851T>A , CM000663.2:g.173911851T>A	GRCh38
NC_000001.10:g.173880989T>A , CM000663.1:g.173880989T>A	GRCh37
NC_000001.9:g.172147612T>A	NCBI36
NG_012462.1:g.10528A>T , LRG_577:g.10528A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.572A>T MANE Select	ENSP00000356671.3:p.Gln191Leu
ENST00000367698.3:c.572A>T	ENSP00000356671.3:p.Gln191Leu
ENST00000487183.1:n.277A>T
ENST00000617423.4:c.559+13A>T	ENSP00000478688.1:n.559+13A>T
NM_000488.3:c.572A>T , LRG_577t1:c.572A>T	NP_000479.1:p.Gln191Leu
XM_005245198.2:c.428A>T	XP_005245255.1:p.Gln143Leu
NM_001365052.1:c.428A>T	NP_001351981.1:p.Gln143Leu
NM_000488.4:c.572A>T MANE Select	NP_000479.1:p.Gln191Leu
NM_001365052.2:c.428A>T	NP_001351981.1:p.Gln143Leu
NM_001386302.1:c.572A>T	NP_001373231.1:p.Gln191Leu
NM_001386303.1:c.653A>T	NP_001373232.1:p.Gln218Leu
NM_001386304.1:c.572A>T	NP_001373233.1:p.Gln191Leu
NM_001386305.1:c.572A>T	NP_001373234.1:p.Gln191Leu
NM_001386306.1:c.409-960A>T	NP_001373235.1:n.409-960A>T