Canonical Allele Identifier: CA341748699

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220101T>A (hg19) ; chr1:g.114677480T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677480T>A , CM000663.2:g.114677480T>A	GRCh38
NC_000001.10:g.115220101T>A , CM000663.1:g.115220101T>A	GRCh37
NC_000001.9:g.115021624T>A	NCBI36
NG_008012.1:g.23076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1247A>T	ENSP00000358551.4:p.Gln416Leu
ENST00000520113.7:c.1259A>T MANE Select	ENSP00000430075.3:p.Gln420Leu
ENST00000637080.1:c.1042A>T	ENSP00000489753.1:n.1042A>T
ENST00000639077.1:n.924A>T
ENST00000369538.3:c.1346A>T	ENSP00000358551.3:p.Gln449Leu
ENST00000520113.6:c.1358A>T	ENSP00000430075.2:p.Gln453Leu
NM_000036.2:c.1358A>T	NP_000027.2:p.Gln453Leu
NM_001172626.1:c.1346A>T	NP_001166097.1:p.Gln449Leu
NM_000036.3:c.1259A>T MANE Select	NP_000027.3:p.Gln420Leu
NM_001172626.2:c.1247A>T	NP_001166097.2:p.Gln416Leu