Canonical Allele Identifier: CA403056959

Gene: REEP6

Linked Data

• MyVariant Identifiers: chr19:g.1496325C>G (hg19) ; chr19:g.1496326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1496326C>G , CM000681.2:g.1496326C>G	GRCh38
NC_000019.9:g.1496325C>G , CM000681.1:g.1496325C>G	GRCh37
NC_000019.8:g.1447325C>G	NCBI36
NG_055254.1:g.10322C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233596.8:c.390C>G MANE Select	ENSP00000233596.2:p.Asn130Lys
ENST00000395479.10:c.390C>G MANE Plus Clinical	ENSP00000378861.5:p.Asn130Lys
ENST00000233596.7:c.390C>G	ENSP00000233596.2:p.Asn130Lys
ENST00000395479.8:c.206C>G
ENST00000395484.4:c.174C>G	ENSP00000378865.4:p.Asn58Lys
NM_138393.1:c.390C>G	NP_612402.1:p.Asn130Lys
NM_001329556.2:c.390C>G	NP_001316485.1:p.Asn130Lys
NM_138393.3:c.390C>G	NP_612402.1:p.Asn130Lys
NM_138393.4:c.390C>G MANE Select	NP_612402.1:p.Asn130Lys
NM_001329556.3:c.390C>G MANE Plus Clinical	NP_001316485.1:p.Asn130Lys