Canonical Allele Identifier: CA347265978

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73489810-G-C
• MyVariant Identifiers: chr2:g.73716937G>C (hg19) ; chr2:g.73489810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489810G>C , CM000664.2:g.73489810G>C	GRCh38
NC_000002.11:g.73716937G>C , CM000664.1:g.73716937G>C	GRCh37
NC_000002.10:g.73570445G>C	NCBI36
NG_011690.1:g.109058G>C , LRG_741:g.109058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7470G>C	ENSP00000507671.1:p.Gln2490His
ENST00000682801.1:c.7470G>C	ENSP00000507862.1:p.Gln2490His
ENST00000682859.1:c.7470G>C	ENSP00000508222.1:p.Gln2490His
ENST00000683791.1:c.862G>C
ENST00000684460.1:c.4922G>C
ENST00000684548.1:c.7470G>C	ENSP00000507421.1:p.Gln2490His
ENST00000684590.1:c.1917G>C	ENSP00000507376.1:p.Gln639His
ENST00000684656.1:c.4922G>C
ENST00000613296.6:c.7851G>C MANE Select	ENSP00000482968.1:p.Gln2617His
ENST00000651434.1:c.896-29965G>C
ENST00000423048.5:c.2682G>C	ENSP00000399833.1:p.Gln894His
ENST00000484298.5:c.7725G>C	ENSP00000478155.1:p.Gln2575His
ENST00000613296.4:c.7851G>C	ENSP00000482968.1:p.Gln2617His
ENST00000614410.4:c.7851G>C	ENSP00000479094.1:p.Gln2617His
ENST00000620466.4:n.1654G>C
NM_015120.4:c.7854G>C , LRG_741t1:c.7854G>C	NP_055935.4:p.Gln2618His
NM_001378454.1:c.7851G>C MANE Select	NP_001365383.1:p.Gln2617His