Canonical Allele Identifier: CA50377168

Gene: ALMS1

Linked Data

• dbSNP Id: rs974349409
• gnomAD v2: 2-73716691-G-T
• gnomAD v3: 2-73489564-G-T
• gnomAD v4: 2-73489564-G-T
• MyVariant Identifiers: chr2:g.73716691G>T (hg19) ; chr2:g.73489564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489564G>T , CM000664.2:g.73489564G>T	GRCh38
NC_000002.11:g.73716691G>T , CM000664.1:g.73716691G>T	GRCh37
NC_000002.10:g.73570199G>T	NCBI36
NG_011690.1:g.108812G>T , LRG_741:g.108812G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7294-70G>T	ENSP00000507671.1:n.7294-70G>T
ENST00000682801.1:c.7294-70G>T	ENSP00000507862.1:n.7294-70G>T
ENST00000682859.1:c.7294-70G>T	ENSP00000508222.1:n.7294-70G>T
ENST00000683791.1:c.686-70G>T
ENST00000684460.1:c.4746-70G>T
ENST00000684548.1:c.7294-70G>T	ENSP00000507421.1:n.7294-70G>T
ENST00000684590.1:c.1741-70G>T	ENSP00000507376.1:n.1741-70G>T
ENST00000684656.1:c.4746-70G>T
ENST00000613296.6:c.7675-70G>T MANE Select	ENSP00000482968.1:n.7675-70G>T
ENST00000651434.1:c.896-30211G>T
ENST00000423048.5:c.2506-70G>T	ENSP00000399833.1:n.2506-70G>T
ENST00000484298.5:c.7549-70G>T	ENSP00000478155.1:n.7549-70G>T
ENST00000613296.4:c.7675-70G>T	ENSP00000482968.1:n.7675-70G>T
ENST00000614410.4:c.7675-70G>T	ENSP00000479094.1:n.7675-70G>T
ENST00000620466.4:n.1478-70G>T
NM_015120.4:c.7678-70G>T , LRG_741t1:c.7678-70G>T	NP_055935.4:n.7678-70G>T
NM_001378454.1:c.7675-70G>T MANE Select	NP_001365383.1:n.7675-70G>T