Canonical Allele Identifier: CA427015764

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519814T>C , CM000664.2:g.73519814T>C	GRCh38
NC_000002.11:g.73746941T>C , CM000664.1:g.73746941T>C	GRCh37
NC_000002.10:g.73600449T>C	NCBI36
NG_011690.1:g.139062T>C , LRG_741:g.139062T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9579T>C MANE Select	NP_001365383.1:p.Ser3193=
ENST00000613296.6:c.9579T>C MANE Select	ENSP00000482968.1:p.Ser3193=
NM_015120.4:c.9582T>C , LRG_741t1:c.9582T>C	NP_055935.4:p.Ser3194=
ENST00000423048.5:c.3070T>C	ENSP00000399833.1:p.Ter1024Arg
ENST00000484298.5:c.9453T>C	ENSP00000478155.1:p.Ser3151=
ENST00000613296.4:c.9579T>C	ENSP00000482968.1:p.Ser3193=
ENST00000614410.4:c.9579T>C	ENSP00000479094.1:p.Ser3193=
ENST00000620466.4:n.3382T>C
ENST00000651434.1:c.935T>C
ENST00000652487.1:c.676T>C
ENST00000682565.1:c.9198T>C	ENSP00000507671.1:p.Ser3066=
ENST00000682801.1:c.9198T>C	ENSP00000507862.1:p.Ser3066=
ENST00000682859.1:c.9198T>C	ENSP00000508222.1:p.Ser3066=
ENST00000683791.1:c.2590T>C
ENST00000684460.1:c.6650T>C
ENST00000684548.1:c.9198T>C	ENSP00000507421.1:p.Ser3066=
ENST00000684590.1:c.3645T>C	ENSP00000507376.1:p.Ser1215=
ENST00000684656.1:c.6650T>C