Canonical Allele Identifier: CA1714912

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73557353A>G , CM000664.2:g.73557353A>G	GRCh38
NC_000002.11:g.73784480A>G , CM000664.1:g.73784480A>G	GRCh37
NC_000002.10:g.73637988A>G	NCBI36
NG_011690.1:g.176601A>G , LRG_741:g.176601A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10212A>G MANE Select	NP_001365383.1:p.Ala3404=
ENST00000613296.6:c.10212A>G MANE Select	ENSP00000482968.1:p.Ala3404=
NM_015120.4:c.10215A>G , LRG_741t1:c.10215A>G	NP_055935.4:p.Ala3405=
ENST00000423048.5:c.3703A>G	ENSP00000399833.1:n.3703A>G
ENST00000484298.5:c.10086A>G	ENSP00000478155.1:p.Ala3362=
ENST00000613296.4:c.10212A>G	ENSP00000482968.1:p.Ala3404=
ENST00000614410.4:c.10212A>G	ENSP00000479094.1:p.Ala3404=
ENST00000620466.4:n.4015A>G
ENST00000651057.1:c.366A>G	ENSP00000498504.1:p.Ala122=
ENST00000651434.1:c.1568A>G
ENST00000652487.1:c.1309A>G
ENST00000682565.1:c.9831A>G	ENSP00000507671.1:p.Ala3277=
ENST00000682801.1:c.9831A>G	ENSP00000507862.1:p.Ala3277=
ENST00000682859.1:c.9831A>G	ENSP00000508222.1:p.Ala3277=
ENST00000683791.1:c.3089+6916A>G
ENST00000684460.1:c.7112A>G
ENST00000684548.1:c.9831A>G	ENSP00000507421.1:p.Ala3277=
ENST00000684590.1:c.4278A>G	ENSP00000507376.1:p.Ala1426=
ENST00000684656.1:c.7157A>G