Canonical Allele Identifier: CA419883075

Gene: AMPD1

Linked Data

• dbSNP Id: rs1404255777
• gnomAD v2: 1-115220531-C-T
• gnomAD v4: 1-114677910-C-T
• MyVariant Identifiers: chr1:g.115220531C>T (hg19) ; chr1:g.114677910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677910C>T , CM000663.2:g.114677910C>T	GRCh38
NC_000001.10:g.115220531C>T , CM000663.1:g.115220531C>T	GRCh37
NC_000001.9:g.115022054C>T	NCBI36
NG_008012.1:g.22646G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212G>A	ENSP00000358551.4:p.Lys404=
ENST00000520113.7:c.1224G>A MANE Select	ENSP00000430075.3:p.Lys408=
ENST00000637080.1:c.1007G>A	ENSP00000489753.1:n.1007G>A
ENST00000639077.1:n.889G>A
ENST00000369538.3:c.1311G>A	ENSP00000358551.3:p.Lys437=
ENST00000520113.6:c.1323G>A	ENSP00000430075.2:p.Lys441=
NM_000036.2:c.1323G>A	NP_000027.2:p.Lys441=
NM_001172626.1:c.1311G>A	NP_001166097.1:p.Lys437=
NM_000036.3:c.1224G>A MANE Select	NP_000027.3:p.Lys408=
NM_001172626.2:c.1212G>A	NP_001166097.2:p.Lys404=