Canonical Allele Identifier: CA341748762

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677511-C-G
• MyVariant Identifiers: chr1:g.115220132C>G (hg19) ; chr1:g.114677511C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677511C>G , CM000663.2:g.114677511C>G	GRCh38
NC_000001.10:g.115220132C>G , CM000663.1:g.115220132C>G	GRCh37
NC_000001.9:g.115021655C>G	NCBI36
NG_008012.1:g.23045G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1216G>C	ENSP00000358551.4:p.Val406Leu
ENST00000520113.7:c.1228G>C MANE Select	ENSP00000430075.3:p.Val410Leu
ENST00000637080.1:c.1011G>C	ENSP00000489753.1:n.1011G>C
ENST00000639077.1:n.893G>C
ENST00000369538.3:c.1315G>C	ENSP00000358551.3:p.Val439Leu
ENST00000520113.6:c.1327G>C	ENSP00000430075.2:p.Val443Leu
NM_000036.2:c.1327G>C	NP_000027.2:p.Val443Leu
NM_001172626.1:c.1315G>C	NP_001166097.1:p.Val439Leu
NM_000036.3:c.1228G>C MANE Select	NP_000027.3:p.Val410Leu
NM_001172626.2:c.1216G>C	NP_001166097.2:p.Val406Leu