Canonical Allele Identifier: CA347278278

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559104G>A , CM000664.2:g.73559104G>A	GRCh38
NC_000002.11:g.73786231G>A , CM000664.1:g.73786231G>A	GRCh37
NC_000002.10:g.73639739G>A	NCBI36
NG_011690.1:g.178352G>A , LRG_741:g.178352G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10346G>A MANE Select	NP_001365383.1:p.Trp3449Ter
ENST00000613296.6:c.10346G>A MANE Select	ENSP00000482968.1:p.Trp3449Ter
NM_015120.4:c.10349G>A , LRG_741t1:c.10349G>A	NP_055935.4:p.Trp3450Ter
ENST00000423048.5:c.3837G>A	ENSP00000399833.1:n.3837G>A
ENST00000484298.5:c.10220G>A	ENSP00000478155.1:p.Trp3407Ter
ENST00000613296.4:c.10346G>A	ENSP00000482968.1:p.Trp3449Ter
ENST00000614410.4:c.10346G>A	ENSP00000479094.1:p.Trp3449Ter
ENST00000620466.4:n.4149G>A
ENST00000651057.1:c.500G>A	ENSP00000498504.1:p.Trp167Ter
ENST00000651434.1:c.1702G>A
ENST00000652487.1:c.1443G>A
ENST00000682565.1:c.9965G>A	ENSP00000507671.1:p.Trp3322Ter
ENST00000682801.1:c.9965G>A	ENSP00000507862.1:p.Trp3322Ter
ENST00000682859.1:c.9965G>A	ENSP00000508222.1:p.Trp3322Ter
ENST00000683791.1:c.3089+8667G>A
ENST00000684460.1:c.7246G>A
ENST00000684548.1:c.9965G>A	ENSP00000507421.1:p.Trp3322Ter
ENST00000684590.1:c.4412G>A	ENSP00000507376.1:p.Trp1471Ter
ENST00000684656.1:c.7291G>A