Canonical Allele Identifier: CA426783588

Gene: ALMS1

Linked Data

• dbSNP Id: rs1573054305
• MyVariant Identifiers: chr2:g.73828488T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601361T>G , CM000664.2:g.73601361T>G	GRCh38
NC_000002.11:g.73828488T>G , CM000664.1:g.73828488T>G	GRCh37
NC_000002.10:g.73681996T>G	NCBI36
NG_011690.1:g.220609T>G , LRG_741:g.220609T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11658T>G	ENSP00000507671.1:p.Gly3886=
ENST00000682801.1:c.11167-824T>G	ENSP00000507862.1:n.11167-824T>G
ENST00000682859.1:c.11658T>G	ENSP00000508222.1:p.Gly3886=
ENST00000683791.1:c.4744T>G
ENST00000684460.1:c.8939T>G
ENST00000684548.1:c.11658T>G	ENSP00000507421.1:p.Gly3886=
ENST00000684590.1:c.6105T>G	ENSP00000507376.1:p.Gly2035=
ENST00000684656.1:c.9123T>G
ENST00000613296.6:c.12039T>G MANE Select	ENSP00000482968.1:p.Gly4013=
ENST00000651057.1:c.2193T>G	ENSP00000498504.1:p.Gly731=
ENST00000651434.1:c.3395T>G
ENST00000651750.1:c.1260+480T>G
ENST00000652487.1:c.3210T>G
ENST00000464408.3:n.214T>G
ENST00000484298.5:c.11913T>G	ENSP00000478155.1:p.Gly3971=
ENST00000613296.4:c.12039T>G	ENSP00000482968.1:p.Gly4013=
ENST00000620466.4:n.5842T>G
NM_015120.4:c.12042T>G , LRG_741t1:c.12042T>G	NP_055935.4:p.Gly4014=
NM_001378454.1:c.12039T>G MANE Select	NP_001365383.1:p.Gly4013=