Canonical Allele Identifier: CA419883475

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226842T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684221T>G , CM000663.2:g.114684221T>G	GRCh38
NC_000001.10:g.115226842T>G , CM000663.1:g.115226842T>G	GRCh37
NC_000001.9:g.115028365T>G	NCBI36
NG_008012.1:g.16335A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.513A>C	ENSP00000358551.4:p.Val171=
ENST00000520113.7:c.525A>C MANE Select	ENSP00000430075.3:p.Val175=
ENST00000637080.1:c.528A>C	ENSP00000489753.1:p.Val176=
ENST00000639077.1:n.190A>C
ENST00000369538.3:c.612A>C	ENSP00000358551.3:p.Val204=
ENST00000485564.3:n.399A>C
ENST00000520113.6:c.624A>C	ENSP00000430075.2:p.Val208=
NM_000036.2:c.624A>C	NP_000027.2:p.Val208=
NM_001172626.1:c.612A>C	NP_001166097.1:p.Val204=
NM_000036.3:c.525A>C MANE Select	NP_000027.3:p.Val175=
NM_001172626.2:c.513A>C	NP_001166097.2:p.Val171=