Canonical Allele Identifier: CA347266854

Gene: ALMS1

Linked Data

• dbSNP Id: rs767131644
• MyVariant Identifiers: chr2:g.73828511G>T (hg19) ; chr2:g.73601384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601384G>T , CM000664.2:g.73601384G>T	GRCh38
NC_000002.11:g.73828511G>T , CM000664.1:g.73828511G>T	GRCh37
NC_000002.10:g.73682019G>T	NCBI36
NG_011690.1:g.220632G>T , LRG_741:g.220632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11681G>T	ENSP00000507671.1:p.Gly3894Val
ENST00000682801.1:c.11167-801G>T	ENSP00000507862.1:n.11167-801G>T
ENST00000682859.1:c.11681G>T	ENSP00000508222.1:p.Gly3894Val
ENST00000683791.1:c.4767G>T
ENST00000684460.1:c.8962G>T
ENST00000684548.1:c.11681G>T	ENSP00000507421.1:p.Gly3894Val
ENST00000684590.1:c.6128G>T	ENSP00000507376.1:p.Gly2043Val
ENST00000684656.1:c.9146G>T
ENST00000613296.6:c.12062G>T MANE Select	ENSP00000482968.1:p.Gly4021Val
ENST00000651057.1:c.2216G>T	ENSP00000498504.1:p.Gly739Val
ENST00000651434.1:c.3418G>T
ENST00000651750.1:c.1260+503G>T
ENST00000652487.1:c.3233G>T
ENST00000464408.3:n.237G>T
ENST00000484298.5:c.11936G>T	ENSP00000478155.1:p.Gly3979Val
ENST00000613296.4:c.12062G>T	ENSP00000482968.1:p.Gly4021Val
ENST00000620466.4:n.5865G>T
NM_015120.4:c.12065G>T , LRG_741t1:c.12065G>T	NP_055935.4:p.Gly4022Val
NM_001378454.1:c.12062G>T MANE Select	NP_001365383.1:p.Gly4021Val