Canonical Allele Identifier: CA343773799

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1657679598
• gnomAD v4: 1-173909677-A-G
• MyVariant Identifiers: chr1:g.173878815A>G (hg19) ; chr1:g.173909677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909677A>G , CM000663.2:g.173909677A>G	GRCh38
NC_000001.10:g.173878815A>G , CM000663.1:g.173878815A>G	GRCh37
NC_000001.9:g.172145438A>G	NCBI36
NG_012462.1:g.12702T>C , LRG_577:g.12702T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1028T>C MANE Select	ENSP00000356671.3:p.Leu343Ser
ENST00000367698.3:c.1028T>C	ENSP00000356671.3:p.Leu343Ser
ENST00000617423.4:c.560-2184T>C	ENSP00000478688.1:n.560-2184T>C
NM_000488.3:c.1028T>C , LRG_577t1:c.1028T>C	NP_000479.1:p.Leu343Ser
XM_005245198.2:c.884T>C	XP_005245255.1:p.Leu295Ser
NM_001365052.1:c.884T>C	NP_001351981.1:p.Leu295Ser
NM_000488.4:c.1028T>C MANE Select	NP_000479.1:p.Leu343Ser
NM_001365052.2:c.884T>C	NP_001351981.1:p.Leu295Ser
NM_001386302.1:c.1151T>C	NP_001373231.1:p.Leu384Ser
NM_001386303.1:c.1109T>C	NP_001373232.1:p.Leu370Ser
NM_001386304.1:c.1007T>C	NP_001373233.1:p.Leu336Ser
NM_001386305.1:c.971T>C	NP_001373234.1:p.Leu324Ser
NM_001386306.1:c.812T>C	NP_001373235.1:p.Leu271Ser