Canonical Allele Identifier: CA1251275

Gene: SERPINC1

Linked Data

• dbSNP Id: rs770381981
• ExAC: 1:173878692 G / A
• gnomAD v2: 1-173878692-G-A
• gnomAD v4: 1-173909554-G-A
• MyVariant Identifiers: chr1:g.173878692G>A (hg19) ; chr1:g.173909554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909554G>A , CM000663.2:g.173909554G>A	GRCh38
NC_000001.10:g.173878692G>A , CM000663.1:g.173878692G>A	GRCh37
NC_000001.9:g.172145315G>A	NCBI36
NG_012462.1:g.12825C>T , LRG_577:g.12825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1151C>T MANE Select	ENSP00000356671.3:p.Pro384Leu
ENST00000367698.3:c.1151C>T	ENSP00000356671.3:p.Pro384Leu
ENST00000617423.4:c.560-2061C>T	ENSP00000478688.1:n.560-2061C>T
NM_000488.3:c.1151C>T , LRG_577t1:c.1151C>T	NP_000479.1:p.Pro384Leu
XM_005245198.2:c.1007C>T	XP_005245255.1:p.Pro336Leu
NM_001365052.1:c.1007C>T	NP_001351981.1:p.Pro336Leu
NM_000488.4:c.1151C>T MANE Select	NP_000479.1:p.Pro384Leu
NM_001365052.2:c.1007C>T	NP_001351981.1:p.Pro336Leu
NM_001386302.1:c.1274C>T	NP_001373231.1:p.Pro425Leu
NM_001386303.1:c.1232C>T	NP_001373232.1:p.Pro411Leu
NM_001386304.1:c.1130C>T	NP_001373233.1:p.Pro377Leu
NM_001386305.1:c.1094C>T	NP_001373234.1:p.Pro365Leu
NM_001386306.1:c.935C>T	NP_001373235.1:p.Pro312Leu