Canonical Allele Identifier: CA1714383

Gene: ALMS1

Linked Data

• dbSNP Id: rs769511187
• ExAC: 2:73717054 C / G
• gnomAD v2: 2-73717054-C-G
• MyVariant Identifiers: chr2:g.73717054C>G (hg19) ; chr2:g.73489927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489927C>G , CM000664.2:g.73489927C>G	GRCh38
NC_000002.11:g.73717054C>G , CM000664.1:g.73717054C>G	GRCh37
NC_000002.10:g.73570562C>G	NCBI36
NG_011690.1:g.109175C>G , LRG_741:g.109175C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7587C>G	ENSP00000507671.1:p.Asn2529Lys
ENST00000682801.1:c.7587C>G	ENSP00000507862.1:p.Asn2529Lys
ENST00000682859.1:c.7587C>G	ENSP00000508222.1:p.Asn2529Lys
ENST00000683791.1:c.979C>G
ENST00000684460.1:c.5039C>G
ENST00000684548.1:c.7587C>G	ENSP00000507421.1:p.Asn2529Lys
ENST00000684590.1:c.2034C>G	ENSP00000507376.1:p.Asn678Lys
ENST00000684656.1:c.5039C>G
ENST00000613296.6:c.7968C>G MANE Select	ENSP00000482968.1:p.Asn2656Lys
ENST00000651434.1:c.896-29848C>G
ENST00000423048.5:c.2799C>G	ENSP00000399833.1:p.Asn933Lys
ENST00000484298.5:c.7842C>G	ENSP00000478155.1:p.Asn2614Lys
ENST00000613296.4:c.7968C>G	ENSP00000482968.1:p.Asn2656Lys
ENST00000614410.4:c.7968C>G	ENSP00000479094.1:p.Asn2656Lys
ENST00000620466.4:n.1771C>G
NM_015120.4:c.7971C>G , LRG_741t1:c.7971C>G	NP_055935.4:p.Asn2657Lys
NM_001378454.1:c.7968C>G MANE Select	NP_001365383.1:p.Asn2656Lys