Canonical Allele Identifier: CA10044115

Gene: RSPH1 SLC37A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42496186T>G , CM000683.2:g.42496186T>G	GRCh38
NC_000021.8:g.43916296T>G , CM000683.1:g.43916296T>G	GRCh37
NC_000021.7:g.42789365T>G	NCBI36
NG_033931.1:g.1555T>G
NG_034257.1:g.5169A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_080860.4:c.1A>C (RSPH1) MANE Select	NP_543136.1:p.Met1Leu
ENST00000291536.8:c.1A>C (RSPH1) MANE Select	ENSP00000291536.3:p.Met1Leu
NM_001286506.1:c.1A>C (RSPH1)	NP_001273435.1:p.Met1Leu
NM_001286506.2:c.1A>C (RSPH1)	NP_001273435.1:p.Met1Leu
NM_080860.3:c.1A>C (RSPH1)	NP_543136.1:p.Met1Leu
ENST00000291536.7:c.1A>C (RSPH1)	ENSP00000291536.3:p.Met1Leu
ENST00000398352.3:c.1A>C (RSPH1)	ENSP00000381395.3:p.Met1Leu
ENST00000419522.5:c.-344T>G (SLC37A1)	ENSP00000410129.1:n.-344T>G
ENST00000454800.1:n.179T>G (SLC37A1)
ENST00000493019.1:n.61A>C (RSPH1)
XM_005261208.1:c.1A>C (RSPH1)	XP_005261265.1:p.Met1Leu
XM_005261208.2:c.1A>C (RSPH1)	XP_005261265.1:p.Met1Leu
XM_011529786.1:c.1A>C (RSPH1)	XP_011528088.1:p.Met1Leu