Canonical Allele Identifier: CA380702943
Community Standard Title: NM_000062.3(SERPING1):c.1147A>G (p.Met383Val)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611834A>G , CM000673.2:g.57611834A>G GRCh38
NC_000011.9:g.57379307A>G , CM000673.1:g.57379307A>G GRCh37
NC_000011.8:g.57135883A>G NCBI36
NG_009625.1:g.19281A>G , LRG_105:g.19281A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1147A>G MANE Select NP_000053.2:p.Met383Val
ENST00000278407.9:c.1147A>G MANE Select ENSP00000278407.4:p.Met383Val
NM_000062.2:c.1147A>G , LRG_105t1:c.1147A>G NP_000053.2:p.Met383Val
NM_001032295.1:c.1147A>G NP_001027466.1:p.Met383Val
NM_001032295.2:c.1147A>G NP_001027466.1:p.Met383Val
ENST00000278407.8:c.1147A>G ENSP00000278407.4:p.Met383Val
ENST00000340687.10:c.1036A>G ENSP00000341861.6:p.Met346Val
ENST00000378323.8:c.1162A>G ENSP00000367574.4:p.Met388Val
ENST00000378324.6:c.991A>G ENSP00000367575.2:p.Met331Val
ENST00000403558.1:c.1276A>G ENSP00000384420.1:p.Met426Val
ENST00000528996.1:c.348A>G ENSP00000431226.1:n.348A>G
ENST00000528996.2:c.*44A>G ENSP00000431226.2:n.*44A>G
ENST00000530113.1:n.604A>G
ENST00000531133.5:c.648A>G ENSP00000435431.1:n.648A>G
ENST00000531605.2:c.*923A>G ENSP00000503752.1:n.*923A>G
ENST00000531797.5:c.*172A>G ENSP00000432554.1:n.*172A>G
ENST00000619430.1:c.349-71A>G ENSP00000478572.1:n.349-71A>G
ENST00000619430.2:c.943A>G ENSP00000478572.2:p.Met315Val
ENST00000676670.1:c.1147A>G ENSP00000504807.1:p.Met383Val
ENST00000676741.1:n.2229A>G
ENST00000677624.1:c.*567A>G ENSP00000503979.1:n.*567A>G
ENST00000677625.1:c.1093A>G ENSP00000502857.1:p.Met365Val
ENST00000677856.1:n.1400A>G
ENST00000677915.1:c.*44A>G ENSP00000503118.1:n.*44A>G
ENST00000678533.1:c.*701A>G ENSP00000503873.1:n.*701A>G
ENST00000678592.1:c.*87A>G ENSP00000504424.1:n.*87A>G