Canonical Allele Identifier: CA347263660

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73534876T>A , CM000664.2:g.73534876T>A	GRCh38
NC_000002.11:g.73762003T>A , CM000664.1:g.73762003T>A	GRCh37
NC_000002.10:g.73615511T>A	NCBI36
NG_011690.1:g.154124T>A , LRG_741:g.154124T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9834T>A MANE Select	NP_001365383.1:p.Tyr3278Ter
ENST00000613296.6:c.9834T>A MANE Select	ENSP00000482968.1:p.Tyr3278Ter
NM_015120.4:c.9837T>A , LRG_741t1:c.9837T>A	NP_055935.4:p.Tyr3279Ter
ENST00000423048.5:c.3325T>A	ENSP00000399833.1:n.3325T>A
ENST00000476650.2:n.125T>A
ENST00000484298.5:c.9708T>A	ENSP00000478155.1:p.Tyr3236Ter
ENST00000613296.4:c.9834T>A	ENSP00000482968.1:p.Tyr3278Ter
ENST00000614410.4:c.9834T>A	ENSP00000479094.1:p.Tyr3278Ter
ENST00000620466.4:n.3637T>A
ENST00000651057.1:c.61+14860T>A	ENSP00000498504.1:n.61+14860T>A
ENST00000651434.1:c.1190T>A
ENST00000652487.1:c.931T>A
ENST00000682565.1:c.9453T>A	ENSP00000507671.1:p.Tyr3151Ter
ENST00000682801.1:c.9453T>A	ENSP00000507862.1:p.Tyr3151Ter
ENST00000682859.1:c.9453T>A	ENSP00000508222.1:p.Tyr3151Ter
ENST00000683791.1:c.2845T>A
ENST00000684460.1:c.6905T>A
ENST00000684548.1:c.9453T>A	ENSP00000507421.1:p.Tyr3151Ter
ENST00000684590.1:c.3900T>A	ENSP00000507376.1:p.Tyr1300Ter
ENST00000684656.1:c.6852+14860T>A