Canonical Allele Identifier: CA341748614

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677448-G-T
• MyVariant Identifiers: chr1:g.115220069G>T (hg19) ; chr1:g.114677448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677448G>T , CM000663.2:g.114677448G>T	GRCh38
NC_000001.10:g.115220069G>T , CM000663.1:g.115220069G>T	GRCh37
NC_000001.9:g.115021592G>T	NCBI36
NG_008012.1:g.23108C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1279C>A	ENSP00000358551.4:p.Arg427Ser
ENST00000520113.7:c.1291C>A MANE Select	ENSP00000430075.3:p.Arg431Ser
ENST00000637080.1:c.1074C>A	ENSP00000489753.1:n.1074C>A
ENST00000639077.1:n.956C>A
ENST00000369538.3:c.1378C>A	ENSP00000358551.3:p.Arg460Ser
ENST00000520113.6:c.1390C>A	ENSP00000430075.2:p.Arg464Ser
NM_000036.2:c.1390C>A	NP_000027.2:p.Arg464Ser
NM_001172626.1:c.1378C>A	NP_001166097.1:p.Arg460Ser
NM_000036.3:c.1291C>A MANE Select	NP_000027.3:p.Arg431Ser
NM_001172626.2:c.1279C>A	NP_001166097.2:p.Arg427Ser