Canonical Allele Identifier: CA16604259

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 390220
• ClinVar RCV Id: RCV000444958 ; RCV000664556
• dbSNP Id: rs916056435
• gnomAD v2: 2-73652032-T-C
• gnomAD v4: 2-73424904-T-C
• MyVariant Identifiers: chr2:g.73652032T>C (hg19) ; chr2:g.73424904T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73424904T>C , CM000664.2:g.73424904T>C	GRCh38
NC_000002.11:g.73652032T>C , CM000664.1:g.73652032T>C	GRCh37
NC_000002.10:g.73505540T>C	NCBI36
NG_011690.1:g.44150T>C , LRG_741:g.44150T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.787+2T>C	ENSP00000507671.1:n.787+2T>C
ENST00000682675.1:n.1199T>C
ENST00000682801.1:c.787+2T>C	ENSP00000507862.1:n.787+2T>C
ENST00000682859.1:c.787+2T>C	ENSP00000508222.1:n.787+2T>C
ENST00000682889.1:n.1202+2T>C
ENST00000683791.1:c.591+2T>C
ENST00000684548.1:c.787+2T>C	ENSP00000507421.1:n.787+2T>C
ENST00000613296.6:c.1237+2T>C MANE Select	ENSP00000482968.1:n.1237+2T>C
ENST00000484298.5:c.1111+2T>C	ENSP00000478155.1:n.1111+2T>C
ENST00000613296.4:c.1237+2T>C	ENSP00000482968.1:n.1237+2T>C
ENST00000614410.4:c.1237+2T>C	ENSP00000479094.1:n.1237+2T>C
NM_015120.4:c.1240+2T>C , LRG_741t1:c.1240+2T>C	NP_055935.4:n.1240+2T>C
NM_001378454.1:c.1237+2T>C MANE Select	NP_001365383.1:n.1237+2T>C