Canonical Allele Identifier: CA341752360

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226846C>G (hg19) ; chr1:g.114684225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684225C>G , CM000663.2:g.114684225C>G	GRCh38
NC_000001.10:g.115226846C>G , CM000663.1:g.115226846C>G	GRCh37
NC_000001.9:g.115028369C>G	NCBI36
NG_008012.1:g.16331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.509G>C	ENSP00000358551.4:p.Trp170Ser
ENST00000520113.7:c.521G>C MANE Select	ENSP00000430075.3:p.Trp174Ser
ENST00000637080.1:c.524G>C	ENSP00000489753.1:p.Trp175Ser
ENST00000639077.1:n.186G>C
ENST00000369538.3:c.608G>C	ENSP00000358551.3:p.Trp203Ser
ENST00000485564.3:n.395G>C
ENST00000520113.6:c.620G>C	ENSP00000430075.2:p.Trp207Ser
NM_000036.2:c.620G>C	NP_000027.2:p.Trp207Ser
NM_001172626.1:c.608G>C	NP_001166097.1:p.Trp203Ser
NM_000036.3:c.521G>C MANE Select	NP_000027.3:p.Trp174Ser
NM_001172626.2:c.509G>C	NP_001166097.2:p.Trp170Ser