Canonical Allele Identifier: CA347284880

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572573-C-A
• MyVariant Identifiers: chr2:g.73799700C>A (hg19) ; chr2:g.73572573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572573C>A , CM000664.2:g.73572573C>A	GRCh38
NC_000002.11:g.73799700C>A , CM000664.1:g.73799700C>A	GRCh37
NC_000002.10:g.73653208C>A	NCBI36
NG_011690.1:g.191821C>A , LRG_741:g.191821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10315C>A	ENSP00000507671.1:p.Gln3439Lys
ENST00000682801.1:c.10315C>A	ENSP00000507862.1:p.Gln3439Lys
ENST00000682859.1:c.10315C>A	ENSP00000508222.1:p.Gln3439Lys
ENST00000683791.1:c.3401C>A
ENST00000684460.1:c.7596C>A
ENST00000684548.1:c.10315C>A	ENSP00000507421.1:p.Gln3439Lys
ENST00000684590.1:c.4762C>A	ENSP00000507376.1:p.Gln1588Lys
ENST00000684656.1:c.7641C>A
ENST00000613296.6:c.10696C>A MANE Select	ENSP00000482968.1:p.Gln3566Lys
ENST00000651057.1:c.850C>A	ENSP00000498504.1:p.Gln284Lys
ENST00000651434.1:c.2052C>A
ENST00000651750.1:c.84C>A
ENST00000652487.1:c.1793C>A
ENST00000423048.5:c.4187C>A	ENSP00000399833.1:n.4187C>A
ENST00000484298.5:c.10570C>A	ENSP00000478155.1:p.Gln3524Lys
ENST00000613296.4:c.10696C>A	ENSP00000482968.1:p.Gln3566Lys
ENST00000614410.4:c.10696C>A	ENSP00000479094.1:p.Gln3566Lys
ENST00000620466.4:n.4499C>A
NM_015120.4:c.10699C>A , LRG_741t1:c.10699C>A	NP_055935.4:p.Gln3567Lys
NM_001378454.1:c.10696C>A MANE Select	NP_001365383.1:p.Gln3566Lys