Canonical Allele Identifier: CA341748483

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220033A>G (hg19) ; chr1:g.114677412A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677412A>G , CM000663.2:g.114677412A>G	GRCh38
NC_000001.10:g.115220033A>G , CM000663.1:g.115220033A>G	GRCh37
NC_000001.9:g.115021556A>G	NCBI36
NG_008012.1:g.23144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1315T>C	ENSP00000358551.4:p.Phe439Leu
ENST00000520113.7:c.1327T>C MANE Select	ENSP00000430075.3:p.Phe443Leu
ENST00000637080.1:c.1110T>C	ENSP00000489753.1:n.1110T>C
ENST00000639077.1:n.992T>C
ENST00000369538.3:c.1414T>C	ENSP00000358551.3:p.Phe472Leu
ENST00000520113.6:c.1426T>C	ENSP00000430075.2:p.Phe476Leu
NM_000036.2:c.1426T>C	NP_000027.2:p.Phe476Leu
NM_001172626.1:c.1414T>C	NP_001166097.1:p.Phe472Leu
NM_000036.3:c.1327T>C MANE Select	NP_000027.3:p.Phe443Leu
NM_001172626.2:c.1315T>C	NP_001166097.2:p.Phe439Leu