Canonical Allele Identifier: CA1714125

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453324T>A , CM000664.2:g.73453324T>A	GRCh38
NC_000002.11:g.73680451T>A , CM000664.1:g.73680451T>A	GRCh37
NC_000002.10:g.73533959T>A	NCBI36
NG_011690.1:g.72572T>A , LRG_741:g.72572T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6797T>A MANE Select	NP_001365383.1:p.Leu2266Ter
ENST00000613296.6:c.6797T>A MANE Select	ENSP00000482968.1:p.Leu2266Ter
NM_015120.4:c.6800T>A , LRG_741t1:c.6800T>A	NP_055935.4:p.Leu2267Ter
ENST00000423048.5:c.1628T>A	ENSP00000399833.1:p.Leu543Ter
ENST00000484298.5:c.6671T>A	ENSP00000478155.1:p.Leu2224Ter
ENST00000613296.4:c.6797T>A	ENSP00000482968.1:p.Leu2266Ter
ENST00000614410.4:c.6797T>A	ENSP00000479094.1:p.Leu2266Ter
ENST00000620466.4:n.600T>A
ENST00000651434.1:c.18T>A
ENST00000682565.1:c.6416T>A	ENSP00000507671.1:p.Leu2139Ter
ENST00000682801.1:c.6416T>A	ENSP00000507862.1:p.Leu2139Ter
ENST00000682859.1:c.6416T>A	ENSP00000508222.1:p.Leu2139Ter
ENST00000683791.1:c.685+21033T>A
ENST00000684197.1:n.1766T>A
ENST00000684460.1:c.3868T>A
ENST00000684548.1:c.6416T>A	ENSP00000507421.1:p.Leu2139Ter
ENST00000684590.1:c.914T>A	ENSP00000507376.1:p.Leu305Ter
ENST00000684656.1:c.3868T>A