Canonical Allele Identifier: CA29056762

Gene: AMPD1

Linked Data

• dbSNP Id: rs367913980
• MyVariant Identifiers: chr1:g.115222239C>A (hg19) ; chr1:g.114679618C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679618C>A , CM000663.2:g.114679618C>A	GRCh38
NC_000001.10:g.115222239C>A , CM000663.1:g.115222239C>A	GRCh37
NC_000001.9:g.115023762C>A	NCBI36
NG_008012.1:g.20938G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.846G>T	ENSP00000358551.4:p.Leu282=
ENST00000520113.7:c.858G>T MANE Select	ENSP00000430075.3:p.Leu286=
ENST00000637080.1:c.641G>T	ENSP00000489753.1:n.641G>T
ENST00000639077.1:n.523G>T
ENST00000369538.3:c.945G>T	ENSP00000358551.3:p.Leu315=
ENST00000520113.6:c.957G>T	ENSP00000430075.2:p.Leu319=
NM_000036.2:c.957G>T	NP_000027.2:p.Leu319=
NM_001172626.1:c.945G>T	NP_001166097.1:p.Leu315=
NM_000036.3:c.858G>T MANE Select	NP_000027.3:p.Leu286=
NM_001172626.2:c.846G>T	NP_001166097.2:p.Leu282=