Canonical Allele Identifier: CA29059918

Gene: AMPD1

Linked Data

• dbSNP Id: rs1037350289
• MyVariant Identifiers: chr1:g.115226819C>T (hg19) ; chr1:g.114684198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684198C>T , CM000663.2:g.114684198C>T	GRCh38
NC_000001.10:g.115226819C>T , CM000663.1:g.115226819C>T	GRCh37
NC_000001.9:g.115028342C>T	NCBI36
NG_008012.1:g.16358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.535+1G>A	ENSP00000358551.4:n.535+1G>A
ENST00000520113.7:c.547+1G>A MANE Select	ENSP00000430075.3:n.547+1G>A
ENST00000637080.1:c.550+1G>A	ENSP00000489753.1:n.550+1G>A
ENST00000639077.1:n.212+1G>A
ENST00000369538.3:c.634+1G>A	ENSP00000358551.3:n.634+1G>A
ENST00000485564.3:n.421+1G>A
ENST00000520113.6:c.646+1G>A	ENSP00000430075.2:n.646+1G>A
NM_000036.2:c.646+1G>A	NP_000027.2:n.646+1G>A
NM_001172626.1:c.634+1G>A	NP_001166097.1:n.634+1G>A
NM_000036.3:c.547+1G>A MANE Select	NP_000027.3:n.547+1G>A
NM_001172626.2:c.535+1G>A	NP_001166097.2:n.535+1G>A