Canonical Allele Identifier: CA347267209

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490019-C-T
• MyVariant Identifiers: chr2:g.73717146C>T (hg19) ; chr2:g.73490019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490019C>T , CM000664.2:g.73490019C>T	GRCh38
NC_000002.11:g.73717146C>T , CM000664.1:g.73717146C>T	GRCh37
NC_000002.10:g.73570654C>T	NCBI36
NG_011690.1:g.109267C>T , LRG_741:g.109267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7679C>T	ENSP00000507671.1:p.Ala2560Val
ENST00000682801.1:c.7679C>T	ENSP00000507862.1:p.Ala2560Val
ENST00000682859.1:c.7679C>T	ENSP00000508222.1:p.Ala2560Val
ENST00000683791.1:c.1071C>T
ENST00000684460.1:c.5131C>T
ENST00000684548.1:c.7679C>T	ENSP00000507421.1:p.Ala2560Val
ENST00000684590.1:c.2126C>T	ENSP00000507376.1:p.Ala709Val
ENST00000684656.1:c.5131C>T
ENST00000613296.6:c.8060C>T MANE Select	ENSP00000482968.1:p.Ala2687Val
ENST00000651434.1:c.896-29756C>T
ENST00000423048.5:c.2891C>T	ENSP00000399833.1:p.Ala964Val
ENST00000484298.5:c.7934C>T	ENSP00000478155.1:p.Ala2645Val
ENST00000613296.4:c.8060C>T	ENSP00000482968.1:p.Ala2687Val
ENST00000614410.4:c.8060C>T	ENSP00000479094.1:p.Ala2687Val
ENST00000620466.4:n.1863C>T
NM_015120.4:c.8063C>T , LRG_741t1:c.8063C>T	NP_055935.4:p.Ala2688Val
NM_001378454.1:c.8060C>T MANE Select	NP_001365383.1:p.Ala2687Val