Canonical Allele Identifier: CA347282648

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452110T>A , CM000664.2:g.73452110T>A	GRCh38
NC_000002.11:g.73679237T>A , CM000664.1:g.73679237T>A	GRCh37
NC_000002.10:g.73532745T>A	NCBI36
NG_011690.1:g.71358T>A , LRG_741:g.71358T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5583T>A MANE Select	NP_001365383.1:p.Tyr1861Ter
ENST00000613296.6:c.5583T>A MANE Select	ENSP00000482968.1:p.Tyr1861Ter
NM_015120.4:c.5586T>A , LRG_741t1:c.5586T>A	NP_055935.4:p.Tyr1862Ter
ENST00000423048.5:c.414T>A	ENSP00000399833.1:p.Tyr138Ter
ENST00000484298.5:c.5457T>A	ENSP00000478155.1:p.Tyr1819Ter
ENST00000613296.4:c.5583T>A	ENSP00000482968.1:p.Tyr1861Ter
ENST00000614410.4:c.5583T>A	ENSP00000479094.1:p.Tyr1861Ter
ENST00000682565.1:c.5202T>A	ENSP00000507671.1:p.Tyr1734Ter
ENST00000682801.1:c.5202T>A	ENSP00000507862.1:p.Tyr1734Ter
ENST00000682859.1:c.5202T>A	ENSP00000508222.1:p.Tyr1734Ter
ENST00000683791.1:c.685+19819T>A
ENST00000684197.1:n.552T>A
ENST00000684460.1:c.2654T>A
ENST00000684548.1:c.5202T>A	ENSP00000507421.1:p.Tyr1734Ter
ENST00000684656.1:c.2654T>A