Canonical Allele Identifier: CA1715013

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1122175
• ClinVar RCV Id: RCV001452714
• dbSNP Id: rs776784912
• ExAC: 2:73799489 T / C
• gnomAD v2: 2-73799489-T-C
• MyVariant Identifiers: chr2:g.73799489T>C (hg19) ; chr2:g.73572362T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572362T>C , CM000664.2:g.73572362T>C	GRCh38
NC_000002.11:g.73799489T>C , CM000664.1:g.73799489T>C	GRCh37
NC_000002.10:g.73652997T>C	NCBI36
NG_011690.1:g.191610T>C , LRG_741:g.191610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10104T>C	ENSP00000507671.1:p.Asp3368=
ENST00000682801.1:c.10104T>C	ENSP00000507862.1:p.Asp3368=
ENST00000682859.1:c.10104T>C	ENSP00000508222.1:p.Asp3368=
ENST00000683791.1:c.3190T>C
ENST00000684460.1:c.7385T>C
ENST00000684548.1:c.10104T>C	ENSP00000507421.1:p.Asp3368=
ENST00000684590.1:c.4551T>C	ENSP00000507376.1:p.Asp1517=
ENST00000684656.1:c.7430T>C
ENST00000613296.6:c.10485T>C MANE Select	ENSP00000482968.1:p.Asp3495=
ENST00000651057.1:c.639T>C	ENSP00000498504.1:p.Asp213=
ENST00000651434.1:c.1841T>C
ENST00000652487.1:c.1582T>C
ENST00000423048.5:c.3976T>C	ENSP00000399833.1:n.3976T>C
ENST00000484298.5:c.10359T>C	ENSP00000478155.1:p.Asp3453=
ENST00000613296.4:c.10485T>C	ENSP00000482968.1:p.Asp3495=
ENST00000614410.4:c.10485T>C	ENSP00000479094.1:p.Asp3495=
ENST00000620466.4:n.4288T>C
NM_015120.4:c.10488T>C , LRG_741t1:c.10488T>C	NP_055935.4:p.Asp3496=
NM_001378454.1:c.10485T>C MANE Select	NP_001365383.1:p.Asp3495=