Canonical Allele Identifier: CA343774413

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878965C>A (hg19) ; chr1:g.173909827C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909827C>A , CM000663.2:g.173909827C>A	GRCh38
NC_000001.10:g.173878965C>A , CM000663.1:g.173878965C>A	GRCh37
NC_000001.9:g.172145588C>A	NCBI36
NG_012462.1:g.12552G>T , LRG_577:g.12552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.878G>T MANE Select	ENSP00000356671.3:p.Arg293Leu
ENST00000367698.3:c.878G>T	ENSP00000356671.3:p.Arg293Leu
ENST00000487183.1:n.529G>T
ENST00000617423.4:c.559+2037G>T	ENSP00000478688.1:n.559+2037G>T
NM_000488.3:c.878G>T , LRG_577t1:c.878G>T	NP_000479.1:p.Arg293Leu
XM_005245198.2:c.734G>T	XP_005245255.1:p.Arg245Leu
NM_001365052.1:c.734G>T	NP_001351981.1:p.Arg245Leu
NM_000488.4:c.878G>T MANE Select	NP_000479.1:p.Arg293Leu
NM_001365052.2:c.734G>T	NP_001351981.1:p.Arg245Leu
NM_001386302.1:c.1001G>T	NP_001373231.1:p.Arg334Leu
NM_001386303.1:c.959G>T	NP_001373232.1:p.Arg320Leu
NM_001386304.1:c.857G>T	NP_001373233.1:p.Arg286Leu
NM_001386305.1:c.821G>T	NP_001373234.1:p.Arg274Leu
NM_001386306.1:c.662G>T	NP_001373235.1:p.Arg221Leu