Canonical Allele Identifier: CA347266315

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828448C>T (hg19) ; chr2:g.73601321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601321C>T , CM000664.2:g.73601321C>T	GRCh38
NC_000002.11:g.73828448C>T , CM000664.1:g.73828448C>T	GRCh37
NC_000002.10:g.73681956C>T	NCBI36
NG_011690.1:g.220569C>T , LRG_741:g.220569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11618C>T	ENSP00000507671.1:p.Pro3873Leu
ENST00000682801.1:c.11167-864C>T	ENSP00000507862.1:n.11167-864C>T
ENST00000682859.1:c.11618C>T	ENSP00000508222.1:p.Pro3873Leu
ENST00000683791.1:c.4704C>T
ENST00000684460.1:c.8899C>T
ENST00000684548.1:c.11618C>T	ENSP00000507421.1:p.Pro3873Leu
ENST00000684590.1:c.6065C>T	ENSP00000507376.1:p.Pro2022Leu
ENST00000684656.1:c.9083C>T
ENST00000613296.6:c.11999C>T MANE Select	ENSP00000482968.1:p.Pro4000Leu
ENST00000651057.1:c.2153C>T	ENSP00000498504.1:p.Pro718Leu
ENST00000651434.1:c.3355C>T
ENST00000651750.1:c.1260+440C>T
ENST00000652487.1:c.3170C>T
ENST00000464408.3:n.174C>T
ENST00000484298.5:c.11873C>T	ENSP00000478155.1:p.Pro3958Leu
ENST00000613296.4:c.11999C>T	ENSP00000482968.1:p.Pro4000Leu
ENST00000620466.4:n.5802C>T
NM_015120.4:c.12002C>T , LRG_741t1:c.12002C>T	NP_055935.4:p.Pro4001Leu
NM_001378454.1:c.11999C>T MANE Select	NP_001365383.1:p.Pro4000Leu