Canonical Allele Identifier: CA343774510
Gene: SERPINC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.173878986T>G (hg19) chr1:g.173909848T>G (hg38)
ERepo: CA343774510/MONDO:0013144/084
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909848T>G , CM000663.2:g.173909848T>G GRCh38
NC_000001.10:g.173878986T>G , CM000663.1:g.173878986T>G GRCh37
NC_000001.9:g.172145609T>G NCBI36
NG_012462.1:g.12531A>C , LRG_577:g.12531A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.857A>C MANE Select ENSP00000356671.3:p.Gln286Pro
ENST00000367698.3:c.857A>C ENSP00000356671.3:p.Gln286Pro
ENST00000487183.1:n.508A>C
ENST00000617423.4:c.559+2016A>C ENSP00000478688.1:n.559+2016A>C
NM_000488.3:c.857A>C , LRG_577t1:c.857A>C NP_000479.1:p.Gln286Pro
XM_005245198.2:c.713A>C XP_005245255.1:p.Gln238Pro
NM_001365052.1:c.713A>C NP_001351981.1:p.Gln238Pro
NM_000488.4:c.857A>C MANE Select NP_000479.1:p.Gln286Pro
NM_001365052.2:c.713A>C NP_001351981.1:p.Gln238Pro
NM_001386302.1:c.980A>C NP_001373231.1:p.Gln327Pro
NM_001386303.1:c.938A>C NP_001373232.1:p.Gln313Pro
NM_001386304.1:c.836A>C NP_001373233.1:p.Gln279Pro
NM_001386305.1:c.800A>C NP_001373234.1:p.Gln267Pro
NM_001386306.1:c.641A>C NP_001373235.1:p.Gln214Pro
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