Canonical Allele Identifier: CA343772142

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873062A>G (hg19) ; chr1:g.173903924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903924A>G , CM000663.2:g.173903924A>G	GRCh38
NC_000001.10:g.173873062A>G , CM000663.1:g.173873062A>G	GRCh37
NC_000001.9:g.172139685A>G	NCBI36
NG_012462.1:g.18455T>C , LRG_577:g.18455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1360T>C MANE Select	ENSP00000356671.3:p.Phe454Leu
ENST00000367698.3:c.1360T>C	ENSP00000356671.3:p.Phe454Leu
ENST00000617423.4:c.745T>C	ENSP00000478688.1:p.Phe249Leu
NM_000488.3:c.1360T>C , LRG_577t1:c.1360T>C	NP_000479.1:p.Phe454Leu
XM_005245198.2:c.1216T>C	XP_005245255.1:p.Phe406Leu
NM_001365052.1:c.1216T>C	NP_001351981.1:p.Phe406Leu
NM_000488.4:c.1360T>C MANE Select	NP_000479.1:p.Phe454Leu
NM_001365052.2:c.1216T>C	NP_001351981.1:p.Phe406Leu
NM_001386302.1:c.1483T>C	NP_001373231.1:p.Phe495Leu
NM_001386303.1:c.1441T>C	NP_001373232.1:p.Phe481Leu
NM_001386304.1:c.1339T>C	NP_001373233.1:p.Phe447Leu
NM_001386305.1:c.1303T>C	NP_001373234.1:p.Phe435Leu
NM_001386306.1:c.1144T>C	NP_001373235.1:p.Phe382Leu