Canonical Allele Identifier: CA369549458

Gene: AGK

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141611226T>C , CM000669.2:g.141611226T>C	GRCh38
NC_000007.13:g.141311026T>C , CM000669.1:g.141311026T>C	GRCh37
NC_000007.12:g.140957495T>C	NCBI36
NG_032079.1:g.64949T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.329T>C	ENSP00000497039.1:p.Leu110Pro
ENST00000647898.1:n.219T>C
ENST00000648068.1:c.329T>C	ENSP00000498112.1:p.Leu110Pro
ENST00000648395.1:c.53T>C	ENSP00000497666.1:p.Leu18Pro
ENST00000648489.1:n.360T>C
ENST00000648690.1:c.53T>C	ENSP00000497945.1:p.Leu18Pro
ENST00000649014.1:c.329T>C	ENSP00000497984.1:p.Leu110Pro
ENST00000649286.2:c.329T>C MANE Select	ENSP00000497280.1:p.Leu110Pro
ENST00000649365.1:c.*337T>C	ENSP00000496835.1:n.*337T>C
ENST00000649538.1:n.357T>C
ENST00000649790.1:c.53T>C	ENSP00000498193.1:p.Leu18Pro
ENST00000649914.1:c.317T>C	ENSP00000497848.1:p.Leu106Pro
ENST00000650006.1:c.329T>C	ENSP00000497457.1:p.Leu110Pro
ENST00000650365.1:c.*214T>C	ENSP00000497358.1:n.*214T>C
ENST00000650547.1:c.329T>C	ENSP00000496789.1:p.Leu110Pro
ENST00000355413.8:c.329T>C	ENSP00000347581.4:p.Leu110Pro
ENST00000465241.5:n.340T>C
ENST00000473247.5:c.245T>C	ENSP00000420776.1:p.Leu82Pro
ENST00000473884.5:c.*148T>C	ENSP00000420540.1:n.*148T>C
ENST00000494688.1:c.320T>C	ENSP00000418101.1:p.Leu107Pro
ENST00000496273.1:n.92T>C
ENST00000629555.2:c.320T>C	ENSP00000487274.1:p.Leu107Pro
NM_018238.3:c.329T>C	NP_060708.1:p.Leu110Pro
XM_005250023.3:c.329T>C	XP_005250080.1:p.Leu110Pro
XM_011516397.1:c.329T>C	XP_011514699.1:p.Leu110Pro
NM_001364948.1:c.329T>C	NP_001351877.1:p.Leu110Pro
NM_018238.4:c.329T>C MANE Select	NP_060708.1:p.Leu110Pro
XM_011516397.3:c.329T>C	XP_011514699.1:p.Leu110Pro
XM_024446835.1:c.329T>C	XP_024302603.1:p.Leu110Pro
NM_001364948.2:c.329T>C	NP_001351877.1:p.Leu110Pro
NM_001364948.3:c.329T>C	NP_001351877.1:p.Leu110Pro