Canonical Allele Identifier: CA347267024

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828532T>A (hg19) ; chr2:g.73601405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601405T>A , CM000664.2:g.73601405T>A	GRCh38
NC_000002.11:g.73828532T>A , CM000664.1:g.73828532T>A	GRCh37
NC_000002.10:g.73682040T>A	NCBI36
NG_011690.1:g.220653T>A , LRG_741:g.220653T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11702T>A	ENSP00000507671.1:p.Leu3901Gln
ENST00000682801.1:c.11167-780T>A	ENSP00000507862.1:n.11167-780T>A
ENST00000682859.1:c.11702T>A	ENSP00000508222.1:p.Leu3901Gln
ENST00000683791.1:c.4788T>A
ENST00000684460.1:c.8983T>A
ENST00000684548.1:c.11702T>A	ENSP00000507421.1:p.Leu3901Gln
ENST00000684590.1:c.6149T>A	ENSP00000507376.1:p.Leu2050Gln
ENST00000684656.1:c.9167T>A
ENST00000613296.6:c.12083T>A MANE Select	ENSP00000482968.1:p.Leu4028Gln
ENST00000651057.1:c.2237T>A	ENSP00000498504.1:p.Leu746Gln
ENST00000651434.1:c.3439T>A
ENST00000651750.1:c.1260+524T>A
ENST00000652487.1:c.3254T>A
ENST00000464408.3:n.258T>A
ENST00000484298.5:c.11957T>A	ENSP00000478155.1:p.Leu3986Gln
ENST00000613296.4:c.12083T>A	ENSP00000482968.1:p.Leu4028Gln
ENST00000620466.4:n.5886T>A
NM_015120.4:c.12086T>A , LRG_741t1:c.12086T>A	NP_055935.4:p.Leu4029Gln
NM_001378454.1:c.12083T>A MANE Select	NP_001365383.1:p.Leu4028Gln