Canonical Allele Identifier: CA410365922

Gene: RSPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42485780G>T , CM000683.2:g.42485780G>T	GRCh38
NC_000021.8:g.43905890G>T , CM000683.1:g.43905890G>T	GRCh37
NC_000021.7:g.42778959G>T	NCBI36
NG_034257.1:g.15575C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080860.4:c.390C>A MANE Select	NP_543136.1:p.Tyr130Ter
ENST00000291536.8:c.390C>A MANE Select	ENSP00000291536.3:p.Tyr130Ter
NM_001286506.1:c.276C>A	NP_001273435.1:p.Tyr92Ter
NM_001286506.2:c.276C>A	NP_001273435.1:p.Tyr92Ter
NM_080860.3:c.390C>A	NP_543136.1:p.Tyr130Ter
ENST00000291536.7:c.390C>A	ENSP00000291536.3:p.Tyr130Ter
ENST00000398352.3:c.276C>A	ENSP00000381395.3:p.Tyr92Ter
ENST00000493019.1:n.1016C>A
XM_005261208.1:c.183C>A	XP_005261265.1:p.Tyr61Ter
XM_005261208.2:c.183C>A	XP_005261265.1:p.Tyr61Ter
XM_011529786.1:c.390C>A	XP_011528088.1:p.Tyr130Ter