Canonical Allele Identifier: CA369540813

Gene: AGK

Linked Data

• MyVariant Identifiers: chr7:g.141349067A>T (hg19) ; chr7:g.141649267A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141649267A>T , CM000669.2:g.141649267A>T	GRCh38
NC_000007.13:g.141349067A>T , CM000669.1:g.141349067A>T	GRCh37
NC_000007.12:g.140995536A>T	NCBI36
NG_032079.1:g.102990A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.*943A>T	ENSP00000497039.1:n.*943A>T
ENST00000648068.1:c.980A>T	ENSP00000498112.1:p.Lys327Ile
ENST00000648395.1:c.704A>T	ENSP00000497666.1:p.Lys235Ile
ENST00000648489.1:n.1011A>T
ENST00000649014.1:c.*255A>T	ENSP00000497984.1:n.*255A>T
ENST00000649286.2:c.980A>T MANE Select	ENSP00000497280.1:p.Lys327Ile
ENST00000649365.1:c.*988A>T	ENSP00000496835.1:n.*988A>T
ENST00000649790.1:c.*416A>T	ENSP00000498193.1:n.*416A>T
ENST00000649914.1:c.968A>T	ENSP00000497848.1:p.Lys323Ile
ENST00000650006.1:c.980A>T	ENSP00000497457.1:p.Lys327Ile
ENST00000650365.1:c.*865A>T	ENSP00000497358.1:n.*865A>T
ENST00000650547.1:c.980A>T	ENSP00000496789.1:p.Lys327Ile
ENST00000355413.8:c.980A>T	ENSP00000347581.4:p.Lys327Ile
ENST00000473247.5:c.896A>T	ENSP00000420776.1:p.Lys299Ile
ENST00000494053.1:n.137A>T
ENST00000494688.1:c.*85A>T	ENSP00000418101.1:n.*85A>T
ENST00000629555.2:c.*85A>T	ENSP00000487274.1:n.*85A>T
NM_018238.3:c.980A>T	NP_060708.1:p.Lys327Ile
XM_005250023.3:c.980A>T	XP_005250080.1:p.Lys327Ile
XM_011516397.1:c.980A>T	XP_011514699.1:p.Lys327Ile
NM_001364948.1:c.980A>T	NP_001351877.1:p.Lys327Ile
NM_018238.4:c.980A>T MANE Select	NP_060708.1:p.Lys327Ile
XM_011516397.3:c.980A>T	XP_011514699.1:p.Lys327Ile
XM_024446835.1:c.980A>T	XP_024302603.1:p.Lys327Ile
NM_001364948.2:c.980A>T	NP_001351877.1:p.Lys327Ile
NM_001364948.3:c.980A>T	NP_001351877.1:p.Lys327Ile