Canonical Allele Identifier: CA29060168

Gene: AMPD1

Linked Data

• dbSNP Id: rs914132152
• gnomAD v4: 1-114684454-T-C
• MyVariant Identifiers: chr1:g.115227075T>C (hg19) ; chr1:g.114684454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684454T>C , CM000663.2:g.114684454T>C	GRCh38
NC_000001.10:g.115227075T>C , CM000663.1:g.115227075T>C	GRCh37
NC_000001.9:g.115028598T>C	NCBI36
NG_008012.1:g.16102A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-90A>G	ENSP00000358551.4:n.370-90A>G
ENST00000520113.7:c.382-90A>G MANE Select	ENSP00000430075.3:n.382-90A>G
ENST00000637080.1:c.385-90A>G	ENSP00000489753.1:n.385-90A>G
ENST00000639077.1:n.36A>G
ENST00000369538.3:c.469-90A>G	ENSP00000358551.3:n.469-90A>G
ENST00000485564.3:n.256-90A>G
ENST00000520113.6:c.481-90A>G	ENSP00000430075.2:n.481-90A>G
NM_000036.2:c.481-90A>G	NP_000027.2:n.481-90A>G
NM_001172626.1:c.469-90A>G	NP_001166097.1:n.469-90A>G
NM_000036.3:c.382-90A>G MANE Select	NP_000027.3:n.382-90A>G
NM_001172626.2:c.370-90A>G	NP_001166097.2:n.370-90A>G