Canonical Allele Identifier: CA1715003

Gene: ALMS1

Linked Data

• dbSNP Id: rs750128969
• ExAC: 2:73799431 T / G
• gnomAD v2: 2-73799431-T-G
• gnomAD v4: 2-73572304-T-G
• MyVariant Identifiers: chr2:g.73799431T>G (hg19) ; chr2:g.73572304T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572304T>G , CM000664.2:g.73572304T>G	GRCh38
NC_000002.11:g.73799431T>G , CM000664.1:g.73799431T>G	GRCh37
NC_000002.10:g.73652939T>G	NCBI36
NG_011690.1:g.191552T>G , LRG_741:g.191552T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10046T>G	ENSP00000507671.1:p.Val3349Gly
ENST00000682801.1:c.10046T>G	ENSP00000507862.1:p.Val3349Gly
ENST00000682859.1:c.10046T>G	ENSP00000508222.1:p.Val3349Gly
ENST00000683791.1:c.3132T>G
ENST00000684460.1:c.7327T>G
ENST00000684548.1:c.10046T>G	ENSP00000507421.1:p.Val3349Gly
ENST00000684590.1:c.4493T>G	ENSP00000507376.1:p.Val1498Gly
ENST00000684656.1:c.7372T>G
ENST00000613296.6:c.10427T>G MANE Select	ENSP00000482968.1:p.Val3476Gly
ENST00000651057.1:c.581T>G	ENSP00000498504.1:p.Val194Gly
ENST00000651434.1:c.1783T>G
ENST00000652487.1:c.1524T>G
ENST00000423048.5:c.3918T>G	ENSP00000399833.1:n.3918T>G
ENST00000484298.5:c.10301T>G	ENSP00000478155.1:p.Val3434Gly
ENST00000613296.4:c.10427T>G	ENSP00000482968.1:p.Val3476Gly
ENST00000614410.4:c.10427T>G	ENSP00000479094.1:p.Val3476Gly
ENST00000620466.4:n.4230T>G
NM_015120.4:c.10430T>G , LRG_741t1:c.10430T>G	NP_055935.4:p.Val3477Gly
NM_001378454.1:c.10427T>G MANE Select	NP_001365383.1:p.Val3476Gly