Canonical Allele Identifier: CA343772367

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 958071
• ClinVar RCV Id: RCV001231167
• dbSNP Id: rs1487411568
• MyVariant Identifiers: chr1:g.173873107G>C (hg19) ; chr1:g.173903969G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1315C>G MANE Select	ENSP00000356671.3:p.Pro439Ala
ENST00000367698.3:c.1315C>G	ENSP00000356671.3:p.Pro439Ala
ENST00000617423.4:c.700C>G	ENSP00000478688.1:p.Pro234Ala
NM_000488.3:c.1315C>G , LRG_577t1:c.1315C>G	NP_000479.1:p.Pro439Ala
XM_005245198.2:c.1171C>G	XP_005245255.1:p.Pro391Ala
NM_001365052.1:c.1171C>G	NP_001351981.1:p.Pro391Ala
NM_000488.4:c.1315C>G MANE Select	NP_000479.1:p.Pro439Ala
NM_001365052.2:c.1171C>G	NP_001351981.1:p.Pro391Ala
NM_001386302.1:c.1438C>G	NP_001373231.1:p.Pro480Ala
NM_001386303.1:c.1396C>G	NP_001373232.1:p.Pro466Ala
NM_001386304.1:c.1294C>G	NP_001373233.1:p.Pro432Ala
NM_001386305.1:c.1258C>G	NP_001373234.1:p.Pro420Ala
NM_001386306.1:c.1099C>G	NP_001373235.1:p.Pro367Ala