Canonical Allele Identifier: CA343772592

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873148C>A (hg19) ; chr1:g.173904010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173904010C>A , CM000663.2:g.173904010C>A	GRCh38
NC_000001.10:g.173873148C>A , CM000663.1:g.173873148C>A	GRCh37
NC_000001.9:g.172139771C>A	NCBI36
NG_012462.1:g.18369G>T , LRG_577:g.18369G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1274G>T MANE Select	ENSP00000356671.3:p.Arg425Leu
ENST00000367698.3:c.1274G>T	ENSP00000356671.3:p.Arg425Leu
ENST00000617423.4:c.659G>T	ENSP00000478688.1:p.Arg220Leu
NM_000488.3:c.1274G>T , LRG_577t1:c.1274G>T	NP_000479.1:p.Arg425Leu
XM_005245198.2:c.1130G>T	XP_005245255.1:p.Arg377Leu
NM_001365052.1:c.1130G>T	NP_001351981.1:p.Arg377Leu
NM_000488.4:c.1274G>T MANE Select	NP_000479.1:p.Arg425Leu
NM_001365052.2:c.1130G>T	NP_001351981.1:p.Arg377Leu
NM_001386302.1:c.1397G>T	NP_001373231.1:p.Arg466Leu
NM_001386303.1:c.1355G>T	NP_001373232.1:p.Arg452Leu
NM_001386304.1:c.1253G>T	NP_001373233.1:p.Arg418Leu
NM_001386305.1:c.1217G>T	NP_001373234.1:p.Arg406Leu
NM_001386306.1:c.1058G>T	NP_001373235.1:p.Arg353Leu