Canonical Allele Identifier: CA29054914

Gene: AMPD1

Linked Data

• dbSNP Id: rs560418264
• gnomAD v2: 1-115220390-C-T
• gnomAD v3: 1-114677769-C-T
• gnomAD v4: 1-114677769-C-T
• MyVariant Identifiers: chr1:g.115220390C>T (hg19) ; chr1:g.114677769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677769C>T , CM000663.2:g.114677769C>T	GRCh38
NC_000001.10:g.115220390C>T , CM000663.1:g.115220390C>T	GRCh37
NC_000001.9:g.115021913C>T	NCBI36
NG_008012.1:g.22787G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+141G>A	ENSP00000358551.4:n.1212+141G>A
ENST00000520113.7:c.1224+141G>A MANE Select	ENSP00000430075.3:n.1224+141G>A
ENST00000637080.1:c.1007+141G>A	ENSP00000489753.1:n.1007+141G>A
ENST00000639077.1:n.889+141G>A
ENST00000369538.3:c.1311+141G>A	ENSP00000358551.3:n.1311+141G>A
ENST00000520113.6:c.1323+141G>A	ENSP00000430075.2:n.1323+141G>A
NM_000036.2:c.1323+141G>A	NP_000027.2:n.1323+141G>A
NM_001172626.1:c.1311+141G>A	NP_001166097.1:n.1311+141G>A
NM_000036.3:c.1224+141G>A MANE Select	NP_000027.3:n.1224+141G>A
NM_001172626.2:c.1212+141G>A	NP_001166097.2:n.1212+141G>A