Canonical Allele Identifier: CA277038

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 210122
• ClinVar RCV Id: RCV000192879 ; RCV001723762
• dbSNP Id: rs772624348
• ExAC: 2:73799484 C / T
• gnomAD v2: 2-73799484-C-T
• gnomAD v3: 2-73572357-C-T
• gnomAD v4: 2-73572357-C-T
• MyVariant Identifiers: chr2:g.73799484C>T (hg19) ; chr2:g.73572357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572357C>T , CM000664.2:g.73572357C>T	GRCh38
NC_000002.11:g.73799484C>T , CM000664.1:g.73799484C>T	GRCh37
NC_000002.10:g.73652992C>T	NCBI36
NG_011690.1:g.191605C>T , LRG_741:g.191605C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10099C>T	ENSP00000507671.1:p.Gln3367Ter
ENST00000682801.1:c.10099C>T	ENSP00000507862.1:p.Gln3367Ter
ENST00000682859.1:c.10099C>T	ENSP00000508222.1:p.Gln3367Ter
ENST00000683791.1:c.3185C>T
ENST00000684460.1:c.7380C>T
ENST00000684548.1:c.10099C>T	ENSP00000507421.1:p.Gln3367Ter
ENST00000684590.1:c.4546C>T	ENSP00000507376.1:p.Gln1516Ter
ENST00000684656.1:c.7425C>T
ENST00000613296.6:c.10480C>T MANE Select	ENSP00000482968.1:p.Gln3494Ter
ENST00000651057.1:c.634C>T	ENSP00000498504.1:p.Gln212Ter
ENST00000651434.1:c.1836C>T
ENST00000652487.1:c.1577C>T
ENST00000423048.5:c.3971C>T	ENSP00000399833.1:n.3971C>T
ENST00000484298.5:c.10354C>T	ENSP00000478155.1:p.Gln3452Ter
ENST00000613296.4:c.10480C>T	ENSP00000482968.1:p.Gln3494Ter
ENST00000614410.4:c.10480C>T	ENSP00000479094.1:p.Gln3494Ter
ENST00000620466.4:n.4283C>T
NM_015120.4:c.10483C>T , LRG_741t1:c.10483C>T	NP_055935.4:p.Gln3495Ter
NM_001378454.1:c.10480C>T MANE Select	NP_001365383.1:p.Gln3494Ter