Canonical Allele Identifier: CA1020282

Gene: AMPD1

Linked Data

• dbSNP Id: rs765247541
• ExAC: 1:115222200 C / G
• gnomAD v2: 1-115222200-C-G
• gnomAD v4: 1-114679579-C-G
• MyVariant Identifiers: chr1:g.115222200C>G (hg19) ; chr1:g.114679579C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679579C>G , CM000663.2:g.114679579C>G	GRCh38
NC_000001.10:g.115222200C>G , CM000663.1:g.115222200C>G	GRCh37
NC_000001.9:g.115023723C>G	NCBI36
NG_008012.1:g.20977G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.885G>C	ENSP00000358551.4:p.Lys295Asn
ENST00000520113.7:c.897G>C MANE Select	ENSP00000430075.3:p.Lys299Asn
ENST00000637080.1:c.680G>C	ENSP00000489753.1:n.680G>C
ENST00000639077.1:n.562G>C
ENST00000369538.3:c.984G>C	ENSP00000358551.3:p.Lys328Asn
ENST00000520113.6:c.996G>C	ENSP00000430075.2:p.Lys332Asn
NM_000036.2:c.996G>C	NP_000027.2:p.Lys332Asn
NM_001172626.1:c.984G>C	NP_001166097.1:p.Lys328Asn
NM_000036.3:c.897G>C MANE Select	NP_000027.3:p.Lys299Asn
NM_001172626.2:c.885G>C	NP_001166097.2:p.Lys295Asn