Canonical Allele Identifier: CA380690787

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57614499-A-G
• MyVariant Identifiers: chr11:g.57381972A>G (hg19) ; chr11:g.57614499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614499A>G , CM000673.2:g.57614499A>G	GRCh38
NC_000011.9:g.57381972A>G , CM000673.1:g.57381972A>G	GRCh37
NC_000011.8:g.57138548A>G	NCBI36
NG_009625.1:g.21946A>G , LRG_105:g.21946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1421A>G MANE Select	ENSP00000278407.4:p.Gln474Arg
ENST00000528996.2:c.*318A>G	ENSP00000431226.2:n.*318A>G
ENST00000531605.2:c.*1197A>G	ENSP00000503752.1:n.*1197A>G
ENST00000619430.2:c.1217A>G	ENSP00000478572.2:p.Gln406Arg
ENST00000676670.1:c.1421A>G	ENSP00000504807.1:p.Gln474Arg
ENST00000676741.1:n.2503A>G
ENST00000677624.1:c.*841A>G	ENSP00000503979.1:n.*841A>G
ENST00000677625.1:c.1367A>G	ENSP00000502857.1:p.Gln456Arg
ENST00000677856.1:n.1674A>G
ENST00000677915.1:c.*318A>G	ENSP00000503118.1:n.*318A>G
ENST00000678533.1:c.*975A>G	ENSP00000503873.1:n.*975A>G
ENST00000678592.1:c.*361A>G	ENSP00000504424.1:n.*361A>G
ENST00000278407.8:c.1421A>G	ENSP00000278407.4:p.Gln474Arg
ENST00000340687.10:c.1310A>G	ENSP00000341861.6:p.Gln437Arg
ENST00000378323.8:c.1436A>G	ENSP00000367574.4:p.Gln479Arg
ENST00000378324.6:c.1265A>G	ENSP00000367575.2:p.Gln422Arg
ENST00000403558.1:c.1550A>G	ENSP00000384420.1:p.Gln517Arg
ENST00000528996.1:c.622A>G	ENSP00000431226.1:n.622A>G
ENST00000530113.1:n.878A>G
ENST00000531133.5:c.922A>G	ENSP00000435431.1:n.922A>G
ENST00000531797.5:c.*446A>G	ENSP00000432554.1:n.*446A>G
ENST00000619430.1:c.552A>G	ENSP00000478572.1:n.552A>G
NM_000062.2:c.1421A>G , LRG_105t1:c.1421A>G	NP_000053.2:p.Gln474Arg
NM_001032295.1:c.1421A>G	NP_001027466.1:p.Gln474Arg
NM_000062.3:c.1421A>G MANE Select	NP_000053.2:p.Gln474Arg
NM_001032295.2:c.1421A>G	NP_001027466.1:p.Gln474Arg