Canonical Allele Identifier: CA343772370
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 627228
ClinVar RCV Id: RCV000852017
dbSNP Id: rs1487411568
COSMIC: COSM899810

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903969G>T , CM000663.2:g.173903969G>T GRCh38
NC_000001.10:g.173873107G>T , CM000663.1:g.173873107G>T GRCh37
NC_000001.9:g.172139730G>T NCBI36
NG_012462.1:g.18410C>A , LRG_577:g.18410C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.1315C>A MANE Select ENSP00000356671.3:p.Pro439Thr
ENST00000367698.3:c.1315C>A ENSP00000356671.3:p.Pro439Thr
ENST00000617423.4:c.700C>A ENSP00000478688.1:p.Pro234Thr
NM_000488.3:c.1315C>A , LRG_577t1:c.1315C>A NP_000479.1:p.Pro439Thr
XM_005245198.2:c.1171C>A XP_005245255.1:p.Pro391Thr
NM_001365052.1:c.1171C>A NP_001351981.1:p.Pro391Thr
NM_000488.4:c.1315C>A MANE Select NP_000479.1:p.Pro439Thr
NM_001365052.2:c.1171C>A NP_001351981.1:p.Pro391Thr
NM_001386302.1:c.1438C>A NP_001373231.1:p.Pro480Thr
NM_001386303.1:c.1396C>A NP_001373232.1:p.Pro466Thr
NM_001386304.1:c.1294C>A NP_001373233.1:p.Pro432Thr
NM_001386305.1:c.1258C>A NP_001373234.1:p.Pro420Thr
NM_001386306.1:c.1099C>A NP_001373235.1:p.Pro367Thr