Canonical Allele Identifier: CA427024639

Gene: ALMS1

Linked Data

• dbSNP Id: rs2104105385
• MyVariant Identifiers: chr2:g.73799849T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572722T>C , CM000664.2:g.73572722T>C	GRCh38
NC_000002.11:g.73799849T>C , CM000664.1:g.73799849T>C	GRCh37
NC_000002.10:g.73653357T>C	NCBI36
NG_011690.1:g.191970T>C , LRG_741:g.191970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10464T>C	ENSP00000507671.1:p.Pro3488=
ENST00000682801.1:c.10464T>C	ENSP00000507862.1:p.Pro3488=
ENST00000682859.1:c.10464T>C	ENSP00000508222.1:p.Pro3488=
ENST00000683791.1:c.3550T>C
ENST00000684460.1:c.7745T>C
ENST00000684548.1:c.10464T>C	ENSP00000507421.1:p.Pro3488=
ENST00000684590.1:c.4911T>C	ENSP00000507376.1:p.Pro1637=
ENST00000684656.1:c.7790T>C
ENST00000613296.6:c.10845T>C MANE Select	ENSP00000482968.1:p.Pro3615=
ENST00000651057.1:c.999T>C	ENSP00000498504.1:p.Pro333=
ENST00000651434.1:c.2201T>C
ENST00000651750.1:c.233T>C
ENST00000652487.1:c.1942T>C
ENST00000423048.5:c.4336T>C	ENSP00000399833.1:n.4336T>C
ENST00000484298.5:c.10719T>C	ENSP00000478155.1:p.Pro3573=
ENST00000613296.4:c.10845T>C	ENSP00000482968.1:p.Pro3615=
ENST00000614410.4:c.10845T>C	ENSP00000479094.1:p.Pro3615=
ENST00000620466.4:n.4648T>C
NM_015120.4:c.10848T>C , LRG_741t1:c.10848T>C	NP_055935.4:p.Pro3616=
NM_001378454.1:c.10845T>C MANE Select	NP_001365383.1:p.Pro3615=