Canonical Allele Identifier: CA421942771

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909553-T-C
• MyVariant Identifiers: chr1:g.173878691T>C (hg19)
• ERepo: CA421942771/MONDO:0013144/084

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909553T>C , CM000663.2:g.173909553T>C	GRCh38
NC_000001.10:g.173878691T>C , CM000663.1:g.173878691T>C	GRCh37
NC_000001.9:g.172145314T>C	NCBI36
NG_012462.1:g.12826A>G , LRG_577:g.12826A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1152A>G MANE Select	ENSP00000356671.3:p.Pro384=
ENST00000367698.3:c.1152A>G	ENSP00000356671.3:p.Pro384=
ENST00000617423.4:c.560-2060A>G	ENSP00000478688.1:n.560-2060A>G
NM_000488.3:c.1152A>G , LRG_577t1:c.1152A>G	NP_000479.1:p.Pro384=
XM_005245198.2:c.1008A>G	XP_005245255.1:p.Pro336=
NM_001365052.1:c.1008A>G	NP_001351981.1:p.Pro336=
NM_000488.4:c.1152A>G MANE Select	NP_000479.1:p.Pro384=
NM_001365052.2:c.1008A>G	NP_001351981.1:p.Pro336=
NM_001386302.1:c.1275A>G	NP_001373231.1:p.Pro425=
NM_001386303.1:c.1233A>G	NP_001373232.1:p.Pro411=
NM_001386304.1:c.1131A>G	NP_001373233.1:p.Pro377=
NM_001386305.1:c.1095A>G	NP_001373234.1:p.Pro365=
NM_001386306.1:c.936A>G	NP_001373235.1:p.Pro312=