Canonical Allele Identifier: CA347267424

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717181T>C (hg19) ; chr2:g.73490054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490054T>C , CM000664.2:g.73490054T>C	GRCh38
NC_000002.11:g.73717181T>C , CM000664.1:g.73717181T>C	GRCh37
NC_000002.10:g.73570689T>C	NCBI36
NG_011690.1:g.109302T>C , LRG_741:g.109302T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7714T>C	ENSP00000507671.1:p.Ser2572Pro
ENST00000682801.1:c.7714T>C	ENSP00000507862.1:p.Ser2572Pro
ENST00000682859.1:c.7714T>C	ENSP00000508222.1:p.Ser2572Pro
ENST00000683791.1:c.1106T>C
ENST00000684460.1:c.5166T>C
ENST00000684548.1:c.7714T>C	ENSP00000507421.1:p.Ser2572Pro
ENST00000684590.1:c.2161T>C	ENSP00000507376.1:p.Ser721Pro
ENST00000684656.1:c.5166T>C
ENST00000613296.6:c.8095T>C MANE Select	ENSP00000482968.1:p.Ser2699Pro
ENST00000651434.1:c.896-29721T>C
ENST00000423048.5:c.2926T>C	ENSP00000399833.1:p.Ser976Pro
ENST00000484298.5:c.7969T>C	ENSP00000478155.1:p.Ser2657Pro
ENST00000613296.4:c.8095T>C	ENSP00000482968.1:p.Ser2699Pro
ENST00000614410.4:c.8095T>C	ENSP00000479094.1:p.Ser2699Pro
ENST00000620466.4:n.1898T>C
NM_015120.4:c.8098T>C , LRG_741t1:c.8098T>C	NP_055935.4:p.Ser2700Pro
NM_001378454.1:c.8095T>C MANE Select	NP_001365383.1:p.Ser2699Pro