Canonical Allele Identifier: CA343772388
Gene: SERPINC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.173873110T>C (hg19) chr1:g.173903972T>C (hg38)
ERepo: CA343772388/MONDO:0013144/084
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903972T>C , CM000663.2:g.173903972T>C GRCh38
NC_000001.10:g.173873110T>C , CM000663.1:g.173873110T>C GRCh37
NC_000001.9:g.172139733T>C NCBI36
NG_012462.1:g.18407A>G , LRG_577:g.18407A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1312A>G MANE Select ENSP00000356671.3:p.Arg438Gly
ENST00000367698.3:c.1312A>G ENSP00000356671.3:p.Arg438Gly
ENST00000617423.4:c.697A>G ENSP00000478688.1:p.Arg233Gly
NM_000488.3:c.1312A>G , LRG_577t1:c.1312A>G NP_000479.1:p.Arg438Gly
XM_005245198.2:c.1168A>G XP_005245255.1:p.Arg390Gly
NM_001365052.1:c.1168A>G NP_001351981.1:p.Arg390Gly
NM_000488.4:c.1312A>G MANE Select NP_000479.1:p.Arg438Gly
NM_001365052.2:c.1168A>G NP_001351981.1:p.Arg390Gly
NM_001386302.1:c.1435A>G NP_001373231.1:p.Arg479Gly
NM_001386303.1:c.1393A>G NP_001373232.1:p.Arg465Gly
NM_001386304.1:c.1291A>G NP_001373233.1:p.Arg431Gly
NM_001386305.1:c.1255A>G NP_001373234.1:p.Arg419Gly
NM_001386306.1:c.1096A>G NP_001373235.1:p.Arg366Gly
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