Canonical Allele Identifier: CA1020444

Gene: AMPD1

Linked Data

• dbSNP Id: rs777078672
• ExAC: 1:115226995 A / C
• MyVariant Identifiers: chr1:g.115226995A>C (hg19) ; chr1:g.114684374A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684374A>C , CM000663.2:g.114684374A>C	GRCh38
NC_000001.10:g.115226995A>C , CM000663.1:g.115226995A>C	GRCh37
NC_000001.9:g.115028518A>C	NCBI36
NG_008012.1:g.16182T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-10T>G	ENSP00000358551.4:n.370-10T>G
ENST00000520113.7:c.382-10T>G MANE Select	ENSP00000430075.3:n.382-10T>G
ENST00000637080.1:c.385-10T>G	ENSP00000489753.1:n.385-10T>G
ENST00000639077.1:n.47-10T>G
ENST00000369538.3:c.469-10T>G	ENSP00000358551.3:n.469-10T>G
ENST00000485564.3:n.256-10T>G
ENST00000520113.6:c.481-10T>G	ENSP00000430075.2:n.481-10T>G
NM_000036.2:c.481-10T>G	NP_000027.2:n.481-10T>G
NM_001172626.1:c.469-10T>G	NP_001166097.1:n.469-10T>G
NM_000036.3:c.382-10T>G MANE Select	NP_000027.3:n.382-10T>G
NM_001172626.2:c.370-10T>G	NP_001166097.2:n.370-10T>G