Canonical Allele Identifier: CA1715080

Gene: ALMS1

Linked Data

• dbSNP Id: rs775336312
• ExAC: 2:73799873 G / A
• gnomAD v2: 2-73799873-G-A
• MyVariant Identifiers: chr2:g.73799873G>A (hg19) ; chr2:g.73572746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572746G>A , CM000664.2:g.73572746G>A	GRCh38
NC_000002.11:g.73799873G>A , CM000664.1:g.73799873G>A	GRCh37
NC_000002.10:g.73653381G>A	NCBI36
NG_011690.1:g.191994G>A , LRG_741:g.191994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10488G>A	ENSP00000507671.1:p.Leu3496=
ENST00000682801.1:c.10488G>A	ENSP00000507862.1:p.Leu3496=
ENST00000682859.1:c.10488G>A	ENSP00000508222.1:p.Leu3496=
ENST00000683791.1:c.3574G>A
ENST00000684460.1:c.7769G>A
ENST00000684548.1:c.10488G>A	ENSP00000507421.1:p.Leu3496=
ENST00000684590.1:c.4935G>A	ENSP00000507376.1:p.Leu1645=
ENST00000684656.1:c.7814G>A
ENST00000613296.6:c.10869G>A MANE Select	ENSP00000482968.1:p.Leu3623=
ENST00000651057.1:c.1023G>A	ENSP00000498504.1:p.Leu341=
ENST00000651434.1:c.2225G>A
ENST00000651750.1:c.257G>A
ENST00000652487.1:c.1966G>A
ENST00000423048.5:c.4360G>A	ENSP00000399833.1:n.4360G>A
ENST00000484298.5:c.10743G>A	ENSP00000478155.1:p.Leu3581=
ENST00000613296.4:c.10869G>A	ENSP00000482968.1:p.Leu3623=
ENST00000614410.4:c.10869G>A	ENSP00000479094.1:p.Leu3623=
ENST00000620466.4:n.4672G>A
NM_015120.4:c.10872G>A , LRG_741t1:c.10872G>A	NP_055935.4:p.Leu3624=
NM_001378454.1:c.10869G>A MANE Select	NP_001365383.1:p.Leu3623=