Canonical Allele Identifier: CA29056729

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 2804688
• ClinVar RCV Id: RCV003634549
• dbSNP Id: rs952520164
• gnomAD v2: 1-115222181-G-A
• gnomAD v3: 1-114679560-G-A
• gnomAD v4: 1-114679560-G-A
• MyVariant Identifiers: chr1:g.115222181G>A (hg19) ; chr1:g.114679560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679560G>A , CM000663.2:g.114679560G>A	GRCh38
NC_000001.10:g.115222181G>A , CM000663.1:g.115222181G>A	GRCh37
NC_000001.9:g.115023704G>A	NCBI36
NG_008012.1:g.20996C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.885+19C>T	ENSP00000358551.4:n.885+19C>T
ENST00000520113.7:c.897+19C>T MANE Select	ENSP00000430075.3:n.897+19C>T
ENST00000637080.1:c.680+19C>T	ENSP00000489753.1:n.680+19C>T
ENST00000639077.1:n.562+19C>T
ENST00000369538.3:c.984+19C>T	ENSP00000358551.3:n.984+19C>T
ENST00000520113.6:c.996+19C>T	ENSP00000430075.2:n.996+19C>T
NM_000036.2:c.996+19C>T	NP_000027.2:n.996+19C>T
NM_001172626.1:c.984+19C>T	NP_001166097.1:n.984+19C>T
NM_000036.3:c.897+19C>T MANE Select	NP_000027.3:n.897+19C>T
NM_001172626.2:c.885+19C>T	NP_001166097.2:n.885+19C>T