Canonical Allele Identifier: CA347262598

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73432261G>T , CM000664.2:g.73432261G>T	GRCh38
NC_000002.11:g.73659389G>T , CM000664.1:g.73659389G>T	GRCh37
NC_000002.10:g.73512897G>T	NCBI36
NG_011690.1:g.51507G>T , LRG_741:g.51507G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1402G>T MANE Select	NP_001365383.1:p.Val468Leu
ENST00000613296.6:c.1402G>T MANE Select	ENSP00000482968.1:p.Val468Leu
NM_015120.4:c.1405G>T , LRG_741t1:c.1405G>T	NP_055935.4:p.Val469Leu
ENST00000484298.5:c.1276G>T	ENSP00000478155.1:p.Val426Leu
ENST00000613296.4:c.1402G>T	ENSP00000482968.1:p.Val468Leu
ENST00000614410.4:c.1402G>T	ENSP00000479094.1:p.Val468Leu
ENST00000682565.1:c.1021G>T	ENSP00000507671.1:p.Val341Leu
ENST00000682801.1:c.1021G>T	ENSP00000507862.1:p.Val341Leu
ENST00000682859.1:c.1021G>T	ENSP00000508222.1:p.Val341Leu
ENST00000682889.1:n.1367G>T
ENST00000683791.1:c.655G>T
ENST00000684548.1:c.1021G>T	ENSP00000507421.1:p.Val341Leu