Canonical Allele Identifier: CA6008234

Gene: SERPING1

Linked Data

• ClinVar Variation Id: 877133
• ClinVar RCV Id: RCV001102618 ; RCV002320364 ; RCV001491789
• dbSNP Id: rs141529833
• ExAC: 11:57379324 G / A
• gnomAD v2: 11-57379324-G-A
• gnomAD v3: 11-57611851-G-A
• gnomAD v4: 11-57611851-G-A
• MyVariant Identifiers: chr11:g.57379324G>A (hg19) ; chr11:g.57611851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611851G>A , CM000673.2:g.57611851G>A	GRCh38
NC_000011.9:g.57379324G>A , CM000673.1:g.57379324G>A	GRCh37
NC_000011.8:g.57135900G>A	NCBI36
NG_009625.1:g.19298G>A , LRG_105:g.19298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1164G>A MANE Select	ENSP00000278407.4:p.Met388Ile
ENST00000528996.2:c.*61G>A	ENSP00000431226.2:n.*61G>A
ENST00000531605.2:c.*940G>A	ENSP00000503752.1:n.*940G>A
ENST00000619430.2:c.960G>A	ENSP00000478572.2:p.Met320Ile
ENST00000676670.1:c.1164G>A	ENSP00000504807.1:p.Met388Ile
ENST00000676741.1:n.2246G>A
ENST00000677624.1:c.*584G>A	ENSP00000503979.1:n.*584G>A
ENST00000677625.1:c.1110G>A	ENSP00000502857.1:p.Met370Ile
ENST00000677856.1:n.1417G>A
ENST00000677915.1:c.*61G>A	ENSP00000503118.1:n.*61G>A
ENST00000678533.1:c.*718G>A	ENSP00000503873.1:n.*718G>A
ENST00000678592.1:c.*104G>A	ENSP00000504424.1:n.*104G>A
ENST00000278407.8:c.1164G>A	ENSP00000278407.4:p.Met388Ile
ENST00000340687.10:c.1053G>A	ENSP00000341861.6:p.Met351Ile
ENST00000378323.8:c.1179G>A	ENSP00000367574.4:p.Met393Ile
ENST00000378324.6:c.1008G>A	ENSP00000367575.2:p.Met336Ile
ENST00000403558.1:c.1293G>A	ENSP00000384420.1:p.Met431Ile
ENST00000528996.1:c.365G>A	ENSP00000431226.1:n.365G>A
ENST00000530113.1:n.621G>A
ENST00000531133.5:c.665G>A	ENSP00000435431.1:n.665G>A
ENST00000531797.5:c.*189G>A	ENSP00000432554.1:n.*189G>A
ENST00000619430.1:c.349-54G>A	ENSP00000478572.1:n.349-54G>A
NM_000062.2:c.1164G>A , LRG_105t1:c.1164G>A	NP_000053.2:p.Met388Ile
NM_001032295.1:c.1164G>A	NP_001027466.1:p.Met388Ile
NM_000062.3:c.1164G>A MANE Select	NP_000053.2:p.Met388Ile
NM_001032295.2:c.1164G>A	NP_001027466.1:p.Met388Ile