Canonical Allele Identifier: CA1714798

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 423504
• ClinVar RCV Id: RCV000479594 ; RCV001085744 ; RCV002383930
• dbSNP Id: rs200441305
• ExAC: 2:73762049 G / C
• gnomAD v2: 2-73762049-G-C
• gnomAD v3: 2-73534922-G-C
• gnomAD v4: 2-73534922-G-C
• MyVariant Identifiers: chr2:g.73762049G>C (hg19) ; chr2:g.73534922G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73534922G>C , CM000664.2:g.73534922G>C	GRCh38
NC_000002.11:g.73762049G>C , CM000664.1:g.73762049G>C	GRCh37
NC_000002.10:g.73615557G>C	NCBI36
NG_011690.1:g.154170G>C , LRG_741:g.154170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.9499G>C	ENSP00000507671.1:p.Asp3167His
ENST00000682801.1:c.9499G>C	ENSP00000507862.1:p.Asp3167His
ENST00000682859.1:c.9499G>C	ENSP00000508222.1:p.Asp3167His
ENST00000683791.1:c.2891G>C
ENST00000684460.1:c.6951G>C
ENST00000684548.1:c.9499G>C	ENSP00000507421.1:p.Asp3167His
ENST00000684590.1:c.3946G>C	ENSP00000507376.1:p.Asp1316His
ENST00000684656.1:c.6852+14906G>C
ENST00000613296.6:c.9880G>C MANE Select	ENSP00000482968.1:p.Asp3294His
ENST00000651057.1:c.61+14906G>C	ENSP00000498504.1:n.61+14906G>C
ENST00000651434.1:c.1236G>C
ENST00000652487.1:c.977G>C
ENST00000423048.5:c.3371G>C	ENSP00000399833.1:n.3371G>C
ENST00000476650.2:n.171G>C
ENST00000484298.5:c.9754G>C	ENSP00000478155.1:p.Asp3252His
ENST00000613296.4:c.9880G>C	ENSP00000482968.1:p.Asp3294His
ENST00000614410.4:c.9880G>C	ENSP00000479094.1:p.Asp3294His
ENST00000620466.4:n.3683G>C
NM_015120.4:c.9883G>C , LRG_741t1:c.9883G>C	NP_055935.4:p.Asp3295His
NM_001378454.1:c.9880G>C MANE Select	NP_001365383.1:p.Asp3294His