Canonical Allele Identifier: CA1714987

Gene: ALMS1

Linked Data

• dbSNP Id: rs755704295
• ExAC: 2:73799347 A / C
• gnomAD v2: 2-73799347-A-C
• gnomAD v4: 2-73572220-A-C
• MyVariant Identifiers: chr2:g.73799347A>C (hg19) ; chr2:g.73572220A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572220A>C , CM000664.2:g.73572220A>C	GRCh38
NC_000002.11:g.73799347A>C , CM000664.1:g.73799347A>C	GRCh37
NC_000002.10:g.73652855A>C	NCBI36
NG_011690.1:g.191468A>C , LRG_741:g.191468A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-42A>C	ENSP00000507671.1:n.10004-42A>C
ENST00000682801.1:c.10004-42A>C	ENSP00000507862.1:n.10004-42A>C
ENST00000682859.1:c.10004-42A>C	ENSP00000508222.1:n.10004-42A>C
ENST00000683791.1:c.3090-42A>C
ENST00000684460.1:c.7285-42A>C
ENST00000684548.1:c.10004-42A>C	ENSP00000507421.1:n.10004-42A>C
ENST00000684590.1:c.4451-42A>C	ENSP00000507376.1:n.4451-42A>C
ENST00000684656.1:c.7330-42A>C
ENST00000613296.6:c.10385-42A>C MANE Select	ENSP00000482968.1:n.10385-42A>C
ENST00000651057.1:c.539-42A>C	ENSP00000498504.1:n.539-42A>C
ENST00000651434.1:c.1741-42A>C
ENST00000652487.1:c.1482-42A>C
ENST00000423048.5:c.3876-42A>C	ENSP00000399833.1:n.3876-42A>C
ENST00000484298.5:c.10259-42A>C	ENSP00000478155.1:n.10259-42A>C
ENST00000613296.4:c.10385-42A>C	ENSP00000482968.1:n.10385-42A>C
ENST00000614410.4:c.10385-42A>C	ENSP00000479094.1:n.10385-42A>C
ENST00000620466.4:n.4188-42A>C
NM_015120.4:c.10388-42A>C , LRG_741t1:c.10388-42A>C	NP_055935.4:n.10388-42A>C
NM_001378454.1:c.10385-42A>C MANE Select	NP_001365383.1:n.10385-42A>C