Canonical Allele Identifier: CA1714315

Gene: ALMS1

Linked Data

• dbSNP Id: rs779430195
• ExAC: 2:73716755 T / C
• gnomAD v2: 2-73716755-T-C
• gnomAD v4: 2-73489628-T-C
• MyVariant Identifiers: chr2:g.73716755T>C (hg19) ; chr2:g.73489628T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489628T>C , CM000664.2:g.73489628T>C	GRCh38
NC_000002.11:g.73716755T>C , CM000664.1:g.73716755T>C	GRCh37
NC_000002.10:g.73570263T>C	NCBI36
NG_011690.1:g.108876T>C , LRG_741:g.108876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7294-6T>C	ENSP00000507671.1:n.7294-6T>C
ENST00000682801.1:c.7294-6T>C	ENSP00000507862.1:n.7294-6T>C
ENST00000682859.1:c.7294-6T>C	ENSP00000508222.1:n.7294-6T>C
ENST00000683791.1:c.686-6T>C
ENST00000684460.1:c.4746-6T>C
ENST00000684548.1:c.7294-6T>C	ENSP00000507421.1:n.7294-6T>C
ENST00000684590.1:c.1741-6T>C	ENSP00000507376.1:n.1741-6T>C
ENST00000684656.1:c.4746-6T>C
ENST00000613296.6:c.7675-6T>C MANE Select	ENSP00000482968.1:n.7675-6T>C
ENST00000651434.1:c.896-30147T>C
ENST00000423048.5:c.2506-6T>C	ENSP00000399833.1:n.2506-6T>C
ENST00000484298.5:c.7549-6T>C	ENSP00000478155.1:n.7549-6T>C
ENST00000613296.4:c.7675-6T>C	ENSP00000482968.1:n.7675-6T>C
ENST00000614410.4:c.7675-6T>C	ENSP00000479094.1:n.7675-6T>C
ENST00000620466.4:n.1478-6T>C
NM_015120.4:c.7678-6T>C , LRG_741t1:c.7678-6T>C	NP_055935.4:n.7678-6T>C
NM_001378454.1:c.7675-6T>C MANE Select	NP_001365383.1:n.7675-6T>C