Canonical Allele Identifier: CA50391041

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448106G>T , CM000664.2:g.73448106G>T	GRCh38
NC_000002.11:g.73675233G>T , CM000664.1:g.73675233G>T	GRCh37
NC_000002.10:g.73528741G>T	NCBI36
NG_011690.1:g.67354G>T , LRG_741:g.67354G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1579G>T MANE Select	NP_001365383.1:p.Glu527Ter
ENST00000613296.6:c.1579G>T MANE Select	ENSP00000482968.1:p.Glu527Ter
NM_015120.4:c.1582G>T , LRG_741t1:c.1582G>T	NP_055935.4:p.Glu528Ter
ENST00000484298.5:c.1453G>T	ENSP00000478155.1:p.Glu485Ter
ENST00000613296.4:c.1579G>T	ENSP00000482968.1:p.Glu527Ter
ENST00000614410.4:c.1579G>T	ENSP00000479094.1:p.Glu527Ter
ENST00000682565.1:c.1198G>T	ENSP00000507671.1:p.Glu400Ter
ENST00000682801.1:c.1198G>T	ENSP00000507862.1:p.Glu400Ter
ENST00000682859.1:c.1198G>T	ENSP00000508222.1:p.Glu400Ter
ENST00000683791.1:c.685+15815G>T
ENST00000684548.1:c.1198G>T	ENSP00000507421.1:p.Glu400Ter