Canonical Allele Identifier: CA343772379
Gene: SERPINC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.173873109C>A (hg19) chr1:g.173903971C>A (hg38)
ERepo: CA343772379/MONDO:0013144/084
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903971C>A , CM000663.2:g.173903971C>A GRCh38
NC_000001.10:g.173873109C>A , CM000663.1:g.173873109C>A GRCh37
NC_000001.9:g.172139732C>A NCBI36
NG_012462.1:g.18408G>T , LRG_577:g.18408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1313G>T MANE Select ENSP00000356671.3:p.Arg438Met
ENST00000367698.3:c.1313G>T ENSP00000356671.3:p.Arg438Met
ENST00000617423.4:c.698G>T ENSP00000478688.1:p.Arg233Met
NM_000488.3:c.1313G>T , LRG_577t1:c.1313G>T NP_000479.1:p.Arg438Met
XM_005245198.2:c.1169G>T XP_005245255.1:p.Arg390Met
NM_001365052.1:c.1169G>T NP_001351981.1:p.Arg390Met
NM_000488.4:c.1313G>T MANE Select NP_000479.1:p.Arg438Met
NM_001365052.2:c.1169G>T NP_001351981.1:p.Arg390Met
NM_001386302.1:c.1436G>T NP_001373231.1:p.Arg479Met
NM_001386303.1:c.1394G>T NP_001373232.1:p.Arg465Met
NM_001386304.1:c.1292G>T NP_001373233.1:p.Arg431Met
NM_001386305.1:c.1256G>T NP_001373234.1:p.Arg419Met
NM_001386306.1:c.1097G>T NP_001373235.1:p.Arg366Met
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