Canonical Allele Identifier: CA341748701

Gene: AMPD1

Linked Data

• dbSNP Id: rs1207724365
• gnomAD v2: 1-115220101-T-G
• gnomAD v4: 1-114677480-T-G
• MyVariant Identifiers: chr1:g.115220101T>G (hg19) ; chr1:g.114677480T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677480T>G , CM000663.2:g.114677480T>G	GRCh38
NC_000001.10:g.115220101T>G , CM000663.1:g.115220101T>G	GRCh37
NC_000001.9:g.115021624T>G	NCBI36
NG_008012.1:g.23076A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1247A>C	ENSP00000358551.4:p.Gln416Pro
ENST00000520113.7:c.1259A>C MANE Select	ENSP00000430075.3:p.Gln420Pro
ENST00000637080.1:c.1042A>C	ENSP00000489753.1:n.1042A>C
ENST00000639077.1:n.924A>C
ENST00000369538.3:c.1346A>C	ENSP00000358551.3:p.Gln449Pro
ENST00000520113.6:c.1358A>C	ENSP00000430075.2:p.Gln453Pro
NM_000036.2:c.1358A>C	NP_000027.2:p.Gln453Pro
NM_001172626.1:c.1346A>C	NP_001166097.1:p.Gln449Pro
NM_000036.3:c.1259A>C MANE Select	NP_000027.3:p.Gln420Pro
NM_001172626.2:c.1247A>C	NP_001166097.2:p.Gln416Pro