Canonical Allele Identifier: CA381459062

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519750T>C , CM000673.2:g.66519750T>C	GRCh38
NC_000011.9:g.66287221T>C , CM000673.1:g.66287221T>C	GRCh37
NC_000011.8:g.66043797T>C	NCBI36
NG_009093.1:g.14103T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.723+2T>C MANE Select	NP_078925.3:n.723+2T>C
ENST00000318312.12:c.723+2T>C MANE Select	ENSP00000317469.7:n.723+2T>C
NM_024649.4:c.723+2T>C	NP_078925.3:n.723+2T>C
ENST00000318312.11:c.723+2T>C	ENSP00000317469.7:n.723+2T>C
ENST00000393994.4:c.723+2T>C	ENSP00000377563.2:n.723+2T>C
ENST00000419755.3:c.834+2T>C	ENSP00000398526.3:n.834+2T>C
ENST00000455748.6:c.433-1520T>C	ENSP00000405764.2:n.433-1520T>C
ENST00000524458.5:c.*512+2T>C	ENSP00000436195.1:n.*512+2T>C
ENST00000524907.5:n.821T>C
ENST00000525809.5:c.450+2T>C	ENSP00000431187.1:n.450+2T>C
ENST00000526035.5:c.*426+2T>C	ENSP00000434197.1:n.*426+2T>C
ENST00000526760.5:c.*430+2T>C	ENSP00000432140.1:n.*430+2T>C
ENST00000528543.1:n.247T>C
ENST00000529766.5:n.730+2T>C
ENST00000529953.5:n.375+2T>C
ENST00000529955.5:n.694+2T>C
ENST00000532283.1:n.66+2T>C
ENST00000532908.5:c.*383+2T>C	ENSP00000431866.1:n.*383+2T>C
ENST00000533430.5:n.501+2T>C
ENST00000533557.5:c.*383+2T>C	ENSP00000434619.1:n.*383+2T>C
ENST00000533644.5:c.*181+2T>C	ENSP00000436073.1:n.*181+2T>C
ENST00000630659.2:c.*430+2T>C	ENSP00000486455.1:n.*430+2T>C