Canonical Allele Identifier: CA1261022083

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572882C= , CM000664.2:g.73572882C=	GRCh38
NC_000002.11:g.73800009C= , CM000664.1:g.73800009C=	GRCh37
NC_000002.10:g.73653517C=	NCBI36
NG_011690.1:g.192130C= , LRG_741:g.192130C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10624C=	ENSP00000507671.1:p.Gln3542=
ENST00000682801.1:c.10624C=	ENSP00000507862.1:p.Gln3542=
ENST00000682859.1:c.10624C=	ENSP00000508222.1:p.Gln3542=
ENST00000683791.1:c.3710C=
ENST00000684460.1:c.7905C=
ENST00000684548.1:c.10624C=	ENSP00000507421.1:p.Gln3542=
ENST00000684590.1:c.5071C=	ENSP00000507376.1:p.Gln1691=
ENST00000684656.1:c.7950C=
ENST00000613296.6:c.11005C= MANE Select	ENSP00000482968.1:p.Gln3669=
ENST00000651057.1:c.1159C=	ENSP00000498504.1:p.Gln387=
ENST00000651434.1:c.2361C=
ENST00000651750.1:c.393C=
ENST00000652487.1:c.2102C=
ENST00000423048.5:c.4496C=	ENSP00000399833.1:n.4496C=
ENST00000484298.5:c.10879C=	ENSP00000478155.1:p.Gln3627=
ENST00000613296.4:c.11005C=	ENSP00000482968.1:p.Gln3669=
ENST00000614410.4:c.11005C=	ENSP00000479094.1:p.Gln3669=
ENST00000620466.4:n.4808C=
NM_015120.4:c.11008C= , LRG_741t1:c.11008C=	NP_055935.4:p.Gln3670=
NM_001378454.1:c.11005C= MANE Select	NP_001365383.1:p.Gln3669=