Canonical Allele Identifier: CA374947033

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630651C>G (hg19) ; chr9:g.127868372C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868372C>G , CM000671.2:g.127868372C>G	GRCh38
NC_000009.11:g.130630651C>G , CM000671.1:g.130630651C>G	GRCh37
NC_000009.10:g.129670472C>G	NCBI36
NG_011792.1:g.14372G>C
NG_011792.2:g.14372G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.965G>C
ENST00000643029.1:c.*2140G>C	ENSP00000496586.1:n.*2140G>C
ENST00000643338.1:c.*2029G>C	ENSP00000495890.1:n.*2029G>C
ENST00000644144.2:c.465G>C MANE Select	ENSP00000494600.1:p.Lys155Asn
ENST00000645007.1:c.*2389G>C	ENSP00000494773.1:n.*2389G>C
ENST00000646171.1:c.*498G>C	ENSP00000495484.1:n.*498G>C
ENST00000223836.10:c.513G>C	ENSP00000223836.10:p.Lys171Asn
ENST00000373156.5:c.465G>C	ENSP00000362249.1:p.Lys155Asn
ENST00000373176.5:c.465G>C	ENSP00000362271.1:p.Lys155Asn
ENST00000413016.5:c.287G>C
ENST00000550143.5:c.245G>C	ENSP00000449130.1:n.245G>C
NM_000476.2:c.465G>C	NP_000467.1:p.Lys155Asn
XM_005251786.2:c.513G>C	XP_005251843.1:p.Lys171Asn
XM_011518348.1:c.465G>C	XP_011516650.1:p.Lys155Asn
XM_011518349.1:c.285G>C	XP_011516651.1:p.Lys95Asn
NM_001318121.1:c.465G>C	NP_001305050.1:p.Lys155Asn
NM_001318122.1:c.513G>C	NP_001305051.1:p.Lys171Asn
XM_017014428.1:c.465G>C	XP_016869917.1:p.Lys155Asn
XM_024447439.1:c.444G>C	XP_024303207.1:p.Lys148Asn
XM_024447440.1:c.285G>C	XP_024303208.1:p.Lys95Asn
NM_001318122.2:c.513G>C	NP_001305051.1:p.Lys171Asn
NM_000476.3:c.465G>C MANE Select	NP_000467.1:p.Lys155Asn
NR_174625.1:n.3784G>C
NR_174626.1:n.3627G>C
NR_174627.1:n.3664G>C
NR_174628.1:n.3042G>C
NR_174629.1:n.2987G>C
NR_174630.1:n.3023G>C
NR_174631.1:n.2968G>C
NR_174632.1:n.3057G>C