Canonical Allele Identifier: CA347266046

Gene: ALMS1

Linked Data

• dbSNP Id: rs1181837849
• MyVariant Identifiers: chr2:g.73716950T>G (hg19) ; chr2:g.73489823T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489823T>G , CM000664.2:g.73489823T>G	GRCh38
NC_000002.11:g.73716950T>G , CM000664.1:g.73716950T>G	GRCh37
NC_000002.10:g.73570458T>G	NCBI36
NG_011690.1:g.109071T>G , LRG_741:g.109071T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7483T>G	ENSP00000507671.1:p.Cys2495Gly
ENST00000682801.1:c.7483T>G	ENSP00000507862.1:p.Cys2495Gly
ENST00000682859.1:c.7483T>G	ENSP00000508222.1:p.Cys2495Gly
ENST00000683791.1:c.875T>G
ENST00000684460.1:c.4935T>G
ENST00000684548.1:c.7483T>G	ENSP00000507421.1:p.Cys2495Gly
ENST00000684590.1:c.1930T>G	ENSP00000507376.1:p.Cys644Gly
ENST00000684656.1:c.4935T>G
ENST00000613296.6:c.7864T>G MANE Select	ENSP00000482968.1:p.Cys2622Gly
ENST00000651434.1:c.896-29952T>G
ENST00000423048.5:c.2695T>G	ENSP00000399833.1:p.Cys899Gly
ENST00000484298.5:c.7738T>G	ENSP00000478155.1:p.Cys2580Gly
ENST00000613296.4:c.7864T>G	ENSP00000482968.1:p.Cys2622Gly
ENST00000614410.4:c.7864T>G	ENSP00000479094.1:p.Cys2622Gly
ENST00000620466.4:n.1667T>G
NM_015120.4:c.7867T>G , LRG_741t1:c.7867T>G	NP_055935.4:p.Cys2623Gly
NM_001378454.1:c.7864T>G MANE Select	NP_001365383.1:p.Cys2622Gly