Canonical Allele Identifier: CA347264001

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716840G>T (hg19) ; chr2:g.73489713G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489713G>T , CM000664.2:g.73489713G>T	GRCh38
NC_000002.11:g.73716840G>T , CM000664.1:g.73716840G>T	GRCh37
NC_000002.10:g.73570348G>T	NCBI36
NG_011690.1:g.108961G>T , LRG_741:g.108961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7373G>T	ENSP00000507671.1:p.Gly2458Val
ENST00000682801.1:c.7373G>T	ENSP00000507862.1:p.Gly2458Val
ENST00000682859.1:c.7373G>T	ENSP00000508222.1:p.Gly2458Val
ENST00000683791.1:c.765G>T
ENST00000684460.1:c.4825G>T
ENST00000684548.1:c.7373G>T	ENSP00000507421.1:p.Gly2458Val
ENST00000684590.1:c.1820G>T	ENSP00000507376.1:p.Gly607Val
ENST00000684656.1:c.4825G>T
ENST00000613296.6:c.7754G>T MANE Select	ENSP00000482968.1:p.Gly2585Val
ENST00000651434.1:c.896-30062G>T
ENST00000423048.5:c.2585G>T	ENSP00000399833.1:p.Gly862Val
ENST00000484298.5:c.7628G>T	ENSP00000478155.1:p.Gly2543Val
ENST00000613296.4:c.7754G>T	ENSP00000482968.1:p.Gly2585Val
ENST00000614410.4:c.7754G>T	ENSP00000479094.1:p.Gly2585Val
ENST00000620466.4:n.1557G>T
NM_015120.4:c.7757G>T , LRG_741t1:c.7757G>T	NP_055935.4:p.Gly2586Val
NM_001378454.1:c.7754G>T MANE Select	NP_001365383.1:p.Gly2585Val