Canonical Allele Identifier: CA1714389

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 383775
• ClinVar RCV Id: RCV000431981 ; RCV000860050 ; RCV002411337
• dbSNP Id: rs2017116
• ExAC: 2:73717103 G / C
• gnomAD v2: 2-73717103-G-C
• gnomAD v3: 2-73489976-G-C
• gnomAD v4: 2-73489976-G-C
• MyVariant Identifiers: chr2:g.73717103G>C (hg19) ; chr2:g.73489976G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489976G>C , CM000664.2:g.73489976G>C	GRCh38
NC_000002.11:g.73717103G>C , CM000664.1:g.73717103G>C	GRCh37
NC_000002.10:g.73570611G>C	NCBI36
NG_011690.1:g.109224G>C , LRG_741:g.109224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7636G>C	ENSP00000507671.1:p.Asp2546His
ENST00000682801.1:c.7636G>C	ENSP00000507862.1:p.Asp2546His
ENST00000682859.1:c.7636G>C	ENSP00000508222.1:p.Asp2546His
ENST00000683791.1:c.1028G>C
ENST00000684460.1:c.5088G>C
ENST00000684548.1:c.7636G>C	ENSP00000507421.1:p.Asp2546His
ENST00000684590.1:c.2083G>C	ENSP00000507376.1:p.Asp695His
ENST00000684656.1:c.5088G>C
ENST00000613296.6:c.8017G>C MANE Select	ENSP00000482968.1:p.Asp2673His
ENST00000651434.1:c.896-29799G>C
ENST00000423048.5:c.2848G>C	ENSP00000399833.1:p.Asp950His
ENST00000484298.5:c.7891G>C	ENSP00000478155.1:p.Asp2631His
ENST00000613296.4:c.8017G>C	ENSP00000482968.1:p.Asp2673His
ENST00000614410.4:c.8017G>C	ENSP00000479094.1:p.Asp2673His
ENST00000620466.4:n.1820G>C
NM_015120.4:c.8020G>C , LRG_741t1:c.8020G>C	NP_055935.4:p.Asp2674His
NM_001378454.1:c.8017G>C MANE Select	NP_001365383.1:p.Asp2673His