Canonical Allele Identifier: CA1713053

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73424791A>T , CM000664.2:g.73424791A>T	GRCh38
NC_000002.11:g.73651919A>T , CM000664.1:g.73651919A>T	GRCh37
NC_000002.10:g.73505427A>T	NCBI36
NG_011690.1:g.44037A>T , LRG_741:g.44037A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1126A>T MANE Select	NP_001365383.1:p.Thr376Ser
ENST00000613296.6:c.1126A>T MANE Select	ENSP00000482968.1:p.Thr376Ser
NM_015120.4:c.1129A>T , LRG_741t1:c.1129A>T	NP_055935.4:p.Thr377Ser
ENST00000484298.5:c.1000A>T	ENSP00000478155.1:p.Thr334Ser
ENST00000613296.4:c.1126A>T	ENSP00000482968.1:p.Thr376Ser
ENST00000614410.4:c.1126A>T	ENSP00000479094.1:p.Thr376Ser
ENST00000682565.1:c.676A>T	ENSP00000507671.1:p.Thr226Ser
ENST00000682675.1:n.1086A>T
ENST00000682801.1:c.676A>T	ENSP00000507862.1:p.Thr226Ser
ENST00000682859.1:c.676A>T	ENSP00000508222.1:p.Thr226Ser
ENST00000682889.1:n.1091A>T
ENST00000683791.1:c.480A>T
ENST00000684548.1:c.676A>T	ENSP00000507421.1:p.Thr226Ser