Canonical Allele Identifier: CA347284087

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572481-T-C
• MyVariant Identifiers: chr2:g.73799608T>C (hg19) ; chr2:g.73572481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572481T>C , CM000664.2:g.73572481T>C	GRCh38
NC_000002.11:g.73799608T>C , CM000664.1:g.73799608T>C	GRCh37
NC_000002.10:g.73653116T>C	NCBI36
NG_011690.1:g.191729T>C , LRG_741:g.191729T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10223T>C	ENSP00000507671.1:p.Met3408Thr
ENST00000682801.1:c.10223T>C	ENSP00000507862.1:p.Met3408Thr
ENST00000682859.1:c.10223T>C	ENSP00000508222.1:p.Met3408Thr
ENST00000683791.1:c.3309T>C
ENST00000684460.1:c.7504T>C
ENST00000684548.1:c.10223T>C	ENSP00000507421.1:p.Met3408Thr
ENST00000684590.1:c.4670T>C	ENSP00000507376.1:p.Met1557Thr
ENST00000684656.1:c.7549T>C
ENST00000613296.6:c.10604T>C MANE Select	ENSP00000482968.1:p.Met3535Thr
ENST00000651057.1:c.758T>C	ENSP00000498504.1:p.Met253Thr
ENST00000651434.1:c.1960T>C
ENST00000652487.1:c.1701T>C
ENST00000423048.5:c.4095T>C	ENSP00000399833.1:n.4095T>C
ENST00000484298.5:c.10478T>C	ENSP00000478155.1:p.Met3493Thr
ENST00000613296.4:c.10604T>C	ENSP00000482968.1:p.Met3535Thr
ENST00000614410.4:c.10604T>C	ENSP00000479094.1:p.Met3535Thr
ENST00000620466.4:n.4407T>C
NM_015120.4:c.10607T>C , LRG_741t1:c.10607T>C	NP_055935.4:p.Met3536Thr
NM_001378454.1:c.10604T>C MANE Select	NP_001365383.1:p.Met3535Thr