Canonical Allele Identifier: CA343772578
Gene: SERPINC1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.173904007G>C
GRCh37 chr1:g.173873145G>C
Revel Score:
ENST00000367698 (MANE Select) 0.903
ENST00000351522 0.903
ClinVar RCV:
RCV001908898
ClinVar Variation:
1403128
dbSNP:
121909550
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173904007G>C , CM000663.2:g.173904007G>C GRCh38
NC_000001.10:g.173873145G>C , CM000663.1:g.173873145G>C GRCh37
NC_000001.9:g.172139768G>C NCBI36
NG_012462.1:g.18372C>G , LRG_577:g.18372C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1277C>G MANE Select ENSP00000356671.3:p.Ser426Trp
ENST00000367698.3:c.1277C>G ENSP00000356671.3:p.Ser426Trp
ENST00000617423.4:c.662C>G ENSP00000478688.1:p.Ser221Trp
NM_000488.3:c.1277C>G , LRG_577t1:c.1277C>G NP_000479.1:p.Ser426Trp
XM_005245198.2:c.1133C>G XP_005245255.1:p.Ser378Trp
NM_001365052.1:c.1133C>G NP_001351981.1:p.Ser378Trp
NM_000488.4:c.1277C>G MANE Select NP_000479.1:p.Ser426Trp
NM_001365052.2:c.1133C>G NP_001351981.1:p.Ser378Trp
NM_001386302.1:c.1400C>G NP_001373231.1:p.Ser467Trp
NM_001386303.1:c.1358C>G NP_001373232.1:p.Ser453Trp
NM_001386304.1:c.1256C>G NP_001373233.1:p.Ser419Trp
NM_001386305.1:c.1220C>G NP_001373234.1:p.Ser407Trp
NM_001386306.1:c.1061C>G NP_001373235.1:p.Ser354Trp
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