Canonical Allele Identifier: CA1714843

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73550335G>C , CM000664.2:g.73550335G>C	GRCh38
NC_000002.11:g.73777462G>C , CM000664.1:g.73777462G>C	GRCh37
NC_000002.10:g.73630970G>C	NCBI36
NG_011690.1:g.169583G>C , LRG_741:g.169583G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9976G>C MANE Select	NP_001365383.1:p.Ala3326Pro
ENST00000613296.6:c.9976G>C MANE Select	ENSP00000482968.1:p.Ala3326Pro
NM_015120.4:c.9979G>C , LRG_741t1:c.9979G>C	NP_055935.4:p.Ala3327Pro
ENST00000423048.5:c.3467G>C	ENSP00000399833.1:n.3467G>C
ENST00000476650.2:n.199-6885G>C
ENST00000484298.5:c.9850G>C	ENSP00000478155.1:p.Ala3284Pro
ENST00000613296.4:c.9976G>C	ENSP00000482968.1:p.Ala3326Pro
ENST00000614410.4:c.9976G>C	ENSP00000479094.1:p.Ala3326Pro
ENST00000620466.4:n.3779G>C
ENST00000651057.1:c.130G>C	ENSP00000498504.1:p.Ala44Pro
ENST00000651434.1:c.1332G>C
ENST00000652487.1:c.1073G>C
ENST00000682565.1:c.9595G>C	ENSP00000507671.1:p.Ala3199Pro
ENST00000682801.1:c.9595G>C	ENSP00000507862.1:p.Ala3199Pro
ENST00000682859.1:c.9595G>C	ENSP00000508222.1:p.Ala3199Pro
ENST00000683791.1:c.2987G>C
ENST00000684460.1:c.6979-6885G>C
ENST00000684548.1:c.9595G>C	ENSP00000507421.1:p.Ala3199Pro
ENST00000684590.1:c.4042G>C	ENSP00000507376.1:p.Ala1348Pro
ENST00000684656.1:c.6921G>C