Canonical Allele Identifier: CA347266715

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717064G>C (hg19) ; chr2:g.73489937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489937G>C , CM000664.2:g.73489937G>C	GRCh38
NC_000002.11:g.73717064G>C , CM000664.1:g.73717064G>C	GRCh37
NC_000002.10:g.73570572G>C	NCBI36
NG_011690.1:g.109185G>C , LRG_741:g.109185G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7597G>C	ENSP00000507671.1:p.Asp2533His
ENST00000682801.1:c.7597G>C	ENSP00000507862.1:p.Asp2533His
ENST00000682859.1:c.7597G>C	ENSP00000508222.1:p.Asp2533His
ENST00000683791.1:c.989G>C
ENST00000684460.1:c.5049G>C
ENST00000684548.1:c.7597G>C	ENSP00000507421.1:p.Asp2533His
ENST00000684590.1:c.2044G>C	ENSP00000507376.1:p.Asp682His
ENST00000684656.1:c.5049G>C
ENST00000613296.6:c.7978G>C MANE Select	ENSP00000482968.1:p.Asp2660His
ENST00000651434.1:c.896-29838G>C
ENST00000423048.5:c.2809G>C	ENSP00000399833.1:p.Asp937His
ENST00000484298.5:c.7852G>C	ENSP00000478155.1:p.Asp2618His
ENST00000613296.4:c.7978G>C	ENSP00000482968.1:p.Asp2660His
ENST00000614410.4:c.7978G>C	ENSP00000479094.1:p.Asp2660His
ENST00000620466.4:n.1781G>C
NM_015120.4:c.7981G>C , LRG_741t1:c.7981G>C	NP_055935.4:p.Asp2661His
NM_001378454.1:c.7978G>C MANE Select	NP_001365383.1:p.Asp2660His