Canonical Allele Identifier: CA10616149

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 337017
• ClinVar RCV Id: RCV000343648 ; RCV003910301
• dbSNP Id: rs886056305
• MyVariant Identifiers: chr2:g.73679585G>C (hg19) ; chr2:g.73452458G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452458G>C , CM000664.2:g.73452458G>C	GRCh38
NC_000002.11:g.73679585G>C , CM000664.1:g.73679585G>C	GRCh37
NC_000002.10:g.73533093G>C	NCBI36
NG_011690.1:g.71706G>C , LRG_741:g.71706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.5550G>C	ENSP00000507671.1:p.Lys1850Asn
ENST00000682801.1:c.5550G>C	ENSP00000507862.1:p.Lys1850Asn
ENST00000682859.1:c.5550G>C	ENSP00000508222.1:p.Lys1850Asn
ENST00000683791.1:c.685+20167G>C
ENST00000684197.1:n.900G>C
ENST00000684460.1:c.3002G>C
ENST00000684548.1:c.5550G>C	ENSP00000507421.1:p.Lys1850Asn
ENST00000684590.1:c.48G>C	ENSP00000507376.1:p.Lys16Asn
ENST00000684656.1:c.3002G>C
ENST00000613296.6:c.5931G>C MANE Select	ENSP00000482968.1:p.Lys1977Asn
ENST00000423048.5:c.762G>C	ENSP00000399833.1:p.Lys254Asn
ENST00000484298.5:c.5805G>C	ENSP00000478155.1:p.Lys1935Asn
ENST00000613296.4:c.5931G>C	ENSP00000482968.1:p.Lys1977Asn
ENST00000614410.4:c.5931G>C	ENSP00000479094.1:p.Lys1977Asn
NM_015120.4:c.5934G>C , LRG_741t1:c.5934G>C	NP_055935.4:p.Lys1978Asn
NM_001378454.1:c.5931G>C MANE Select	NP_001365383.1:p.Lys1977Asn