Canonical Allele Identifier: CA1138583727

Gene: TKTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154326058C>A , CM000685.2:g.154326058C>A	GRCh38
NC_000023.10:g.153554404C>A , CM000685.1:g.153554404C>A	GRCh37
NC_000023.9:g.153207598C>A	NCBI36
NG_028264.1:g.35378C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012253.4:c.1401+636C>A MANE Select	NP_036385.3:n.1401+636C>A
ENST00000369915.8:c.1401+636C>A MANE Select	ENSP00000358931.3:n.1401+636C>A
NM_001145933.1:c.1383+636C>A	NP_001139405.1:n.1383+636C>A
NM_001145933.2:c.1383+636C>A	NP_001139405.1:n.1383+636C>A
NM_001145934.1:c.1233+636C>A	NP_001139406.1:n.1233+636C>A
NM_001145934.2:c.1233+636C>A	NP_001139406.1:n.1233+636C>A
NM_012253.3:c.1401+636C>A	NP_036385.3:n.1401+636C>A
ENST00000369912.2:c.1233+636C>A	ENSP00000358928.2:n.1233+636C>A
ENST00000369915.7:c.1401+636C>A	ENSP00000358931.3:n.1401+636C>A
ENST00000710264.1:c.1401+636C>A	ENSP00000518160.1:n.1401+636C>A