Canonical Allele Identifier: CA347270339

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490698T>G , CM000664.2:g.73490698T>G	GRCh38
NC_000002.11:g.73717825T>G , CM000664.1:g.73717825T>G	GRCh37
NC_000002.10:g.73571333T>G	NCBI36
NG_011690.1:g.109946T>G , LRG_741:g.109946T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8739T>G MANE Select	NP_001365383.1:p.Tyr2913Ter
ENST00000613296.6:c.8739T>G MANE Select	ENSP00000482968.1:p.Tyr2913Ter
NM_015120.4:c.8742T>G , LRG_741t1:c.8742T>G	NP_055935.4:p.Tyr2914Ter
ENST00000423048.5:c.3030+540T>G	ENSP00000399833.1:n.3030+540T>G
ENST00000484298.5:c.8613T>G	ENSP00000478155.1:p.Tyr2871Ter
ENST00000613296.4:c.8739T>G	ENSP00000482968.1:p.Tyr2913Ter
ENST00000614410.4:c.8739T>G	ENSP00000479094.1:p.Tyr2913Ter
ENST00000620466.4:n.2542T>G
ENST00000651434.1:c.896-29077T>G
ENST00000682565.1:c.8358T>G	ENSP00000507671.1:p.Tyr2786Ter
ENST00000682801.1:c.8358T>G	ENSP00000507862.1:p.Tyr2786Ter
ENST00000682859.1:c.8358T>G	ENSP00000508222.1:p.Tyr2786Ter
ENST00000683791.1:c.1750T>G
ENST00000684460.1:c.5810T>G
ENST00000684548.1:c.8358T>G	ENSP00000507421.1:p.Tyr2786Ter
ENST00000684590.1:c.2805T>G	ENSP00000507376.1:p.Tyr935Ter
ENST00000684656.1:c.5810T>G