Canonical Allele Identifier: CA1715102

Gene: ALMS1

Linked Data

• dbSNP Id: rs771482409
• ExAC: 2:73800009 C / G
• gnomAD v2: 2-73800009-C-G
• gnomAD v4: 2-73572882-C-G
• MyVariant Identifiers: chr2:g.73800009C>G (hg19) ; chr2:g.73572882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572882C>G , CM000664.2:g.73572882C>G	GRCh38
NC_000002.11:g.73800009C>G , CM000664.1:g.73800009C>G	GRCh37
NC_000002.10:g.73653517C>G	NCBI36
NG_011690.1:g.192130C>G , LRG_741:g.192130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10624C>G	ENSP00000507671.1:p.Gln3542Glu
ENST00000682801.1:c.10624C>G	ENSP00000507862.1:p.Gln3542Glu
ENST00000682859.1:c.10624C>G	ENSP00000508222.1:p.Gln3542Glu
ENST00000683791.1:c.3710C>G
ENST00000684460.1:c.7905C>G
ENST00000684548.1:c.10624C>G	ENSP00000507421.1:p.Gln3542Glu
ENST00000684590.1:c.5071C>G	ENSP00000507376.1:p.Gln1691Glu
ENST00000684656.1:c.7950C>G
ENST00000613296.6:c.11005C>G MANE Select	ENSP00000482968.1:p.Gln3669Glu
ENST00000651057.1:c.1159C>G	ENSP00000498504.1:p.Gln387Glu
ENST00000651434.1:c.2361C>G
ENST00000651750.1:c.393C>G
ENST00000652487.1:c.2102C>G
ENST00000423048.5:c.4496C>G	ENSP00000399833.1:n.4496C>G
ENST00000484298.5:c.10879C>G	ENSP00000478155.1:p.Gln3627Glu
ENST00000613296.4:c.11005C>G	ENSP00000482968.1:p.Gln3669Glu
ENST00000614410.4:c.11005C>G	ENSP00000479094.1:p.Gln3669Glu
ENST00000620466.4:n.4808C>G
NM_015120.4:c.11008C>G , LRG_741t1:c.11008C>G	NP_055935.4:p.Gln3670Glu
NM_001378454.1:c.11005C>G MANE Select	NP_001365383.1:p.Gln3669Glu