Canonical Allele Identifier: CA347266468

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828467T>A (hg19) ; chr2:g.73601340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601340T>A , CM000664.2:g.73601340T>A	GRCh38
NC_000002.11:g.73828467T>A , CM000664.1:g.73828467T>A	GRCh37
NC_000002.10:g.73681975T>A	NCBI36
NG_011690.1:g.220588T>A , LRG_741:g.220588T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11637T>A	ENSP00000507671.1:p.Cys3879Ter
ENST00000682801.1:c.11167-845T>A	ENSP00000507862.1:n.11167-845T>A
ENST00000682859.1:c.11637T>A	ENSP00000508222.1:p.Cys3879Ter
ENST00000683791.1:c.4723T>A
ENST00000684460.1:c.8918T>A
ENST00000684548.1:c.11637T>A	ENSP00000507421.1:p.Cys3879Ter
ENST00000684590.1:c.6084T>A	ENSP00000507376.1:p.Cys2028Ter
ENST00000684656.1:c.9102T>A
ENST00000613296.6:c.12018T>A MANE Select	ENSP00000482968.1:p.Cys4006Ter
ENST00000651057.1:c.2172T>A	ENSP00000498504.1:p.Cys724Ter
ENST00000651434.1:c.3374T>A
ENST00000651750.1:c.1260+459T>A
ENST00000652487.1:c.3189T>A
ENST00000464408.3:n.193T>A
ENST00000484298.5:c.11892T>A	ENSP00000478155.1:p.Cys3964Ter
ENST00000613296.4:c.12018T>A	ENSP00000482968.1:p.Cys4006Ter
ENST00000620466.4:n.5821T>A
NM_015120.4:c.12021T>A , LRG_741t1:c.12021T>A	NP_055935.4:p.Cys4007Ter
NM_001378454.1:c.12018T>A MANE Select	NP_001365383.1:p.Cys4006Ter