Canonical Allele Identifier: CA347274288

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73491311G>T , CM000664.2:g.73491311G>T	GRCh38
NC_000002.11:g.73718438G>T , CM000664.1:g.73718438G>T	GRCh37
NC_000002.10:g.73571946G>T	NCBI36
NG_011690.1:g.110559G>T , LRG_741:g.110559G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9352G>T MANE Select	NP_001365383.1:p.Gly3118Ter
ENST00000613296.6:c.9352G>T MANE Select	ENSP00000482968.1:p.Gly3118Ter
NM_015120.4:c.9355G>T , LRG_741t1:c.9355G>T	NP_055935.4:p.Gly3119Ter
ENST00000423048.5:c.3030+1153G>T	ENSP00000399833.1:n.3030+1153G>T
ENST00000484298.5:c.9226G>T	ENSP00000478155.1:p.Gly3076Ter
ENST00000613296.4:c.9352G>T	ENSP00000482968.1:p.Gly3118Ter
ENST00000614410.4:c.9352G>T	ENSP00000479094.1:p.Gly3118Ter
ENST00000620466.4:n.3155G>T
ENST00000651434.1:c.896-28464G>T
ENST00000652487.1:c.449G>T
ENST00000682565.1:c.8971G>T	ENSP00000507671.1:p.Gly2991Ter
ENST00000682801.1:c.8971G>T	ENSP00000507862.1:p.Gly2991Ter
ENST00000682859.1:c.8971G>T	ENSP00000508222.1:p.Gly2991Ter
ENST00000683791.1:c.2363G>T
ENST00000684460.1:c.6423G>T
ENST00000684548.1:c.8971G>T	ENSP00000507421.1:p.Gly2991Ter
ENST00000684590.1:c.3418G>T	ENSP00000507376.1:p.Gly1140Ter
ENST00000684656.1:c.6423G>T