Canonical Allele Identifier: CA347268436

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490315A>T , CM000664.2:g.73490315A>T	GRCh38
NC_000002.11:g.73717442A>T , CM000664.1:g.73717442A>T	GRCh37
NC_000002.10:g.73570950A>T	NCBI36
NG_011690.1:g.109563A>T , LRG_741:g.109563A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8356A>T MANE Select	NP_001365383.1:p.Thr2786Ser
ENST00000613296.6:c.8356A>T MANE Select	ENSP00000482968.1:p.Thr2786Ser
NM_015120.4:c.8359A>T , LRG_741t1:c.8359A>T	NP_055935.4:p.Thr2787Ser
ENST00000423048.5:c.3030+157A>T	ENSP00000399833.1:n.3030+157A>T
ENST00000484298.5:c.8230A>T	ENSP00000478155.1:p.Thr2744Ser
ENST00000613296.4:c.8356A>T	ENSP00000482968.1:p.Thr2786Ser
ENST00000614410.4:c.8356A>T	ENSP00000479094.1:p.Thr2786Ser
ENST00000620466.4:n.2159A>T
ENST00000651434.1:c.896-29460A>T
ENST00000682565.1:c.7975A>T	ENSP00000507671.1:p.Thr2659Ser
ENST00000682801.1:c.7975A>T	ENSP00000507862.1:p.Thr2659Ser
ENST00000682859.1:c.7975A>T	ENSP00000508222.1:p.Thr2659Ser
ENST00000683791.1:c.1367A>T
ENST00000684460.1:c.5427A>T
ENST00000684548.1:c.7975A>T	ENSP00000507421.1:p.Thr2659Ser
ENST00000684590.1:c.2422A>T	ENSP00000507376.1:p.Thr808Ser
ENST00000684656.1:c.5427A>T