Canonical Allele Identifier: CA50377594

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2038333
• ClinVar RCV Id: RCV002890681
• dbSNP Id: rs375121795
• gnomAD v4: 2-73489829-G-C
• MyVariant Identifiers: chr2:g.73716956G>C (hg19) ; chr2:g.73489829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489829G>C , CM000664.2:g.73489829G>C	GRCh38
NC_000002.11:g.73716956G>C , CM000664.1:g.73716956G>C	GRCh37
NC_000002.10:g.73570464G>C	NCBI36
NG_011690.1:g.109077G>C , LRG_741:g.109077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7489G>C	ENSP00000507671.1:p.Ala2497Pro
ENST00000682801.1:c.7489G>C	ENSP00000507862.1:p.Ala2497Pro
ENST00000682859.1:c.7489G>C	ENSP00000508222.1:p.Ala2497Pro
ENST00000683791.1:c.881G>C
ENST00000684460.1:c.4941G>C
ENST00000684548.1:c.7489G>C	ENSP00000507421.1:p.Ala2497Pro
ENST00000684590.1:c.1936G>C	ENSP00000507376.1:p.Ala646Pro
ENST00000684656.1:c.4941G>C
ENST00000613296.6:c.7870G>C MANE Select	ENSP00000482968.1:p.Ala2624Pro
ENST00000651434.1:c.896-29946G>C
ENST00000423048.5:c.2701G>C	ENSP00000399833.1:p.Ala901Pro
ENST00000484298.5:c.7744G>C	ENSP00000478155.1:p.Ala2582Pro
ENST00000613296.4:c.7870G>C	ENSP00000482968.1:p.Ala2624Pro
ENST00000614410.4:c.7870G>C	ENSP00000479094.1:p.Ala2624Pro
ENST00000620466.4:n.1673G>C
NM_015120.4:c.7873G>C , LRG_741t1:c.7873G>C	NP_055935.4:p.Ala2625Pro
NM_001378454.1:c.7870G>C MANE Select	NP_001365383.1:p.Ala2624Pro