Canonical Allele Identifier: CA50044491

Gene: EXOC6B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.72335002G>A , CM000664.2:g.72335002G>A	GRCh38
NC_000002.11:g.72562131G>A , CM000664.1:g.72562131G>A	GRCh37
NC_000002.10:g.72415639G>A	NCBI36
NG_050967.1:g.496047C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015189.3:c.2141C>T MANE Select	NP_056004.1:p.Pro714Leu
ENST00000272427.11:c.2141C>T MANE Select	ENSP00000272427.7:p.Pro714Leu
NM_001321729.1:c.2141C>T	NP_001308658.1:p.Pro714Leu
NM_001321729.2:c.2141C>T	NP_001308658.1:p.Pro714Leu
NM_001321730.1:c.2006C>T	NP_001308659.1:p.Pro669Leu
NM_001321730.2:c.2006C>T	NP_001308659.1:p.Pro669Leu
NM_001321731.1:c.2141C>T	NP_001308660.1:p.Pro714Leu
NM_001321731.2:c.2141C>T	NP_001308660.1:p.Pro714Leu
NM_001321733.1:c.2006C>T	NP_001308662.1:p.Pro669Leu
NM_001321733.2:c.2006C>T	NP_001308662.1:p.Pro669Leu
NM_001321734.1:c.1802C>T	NP_001308663.1:p.Pro601Leu
NM_001321734.2:c.1802C>T	NP_001308663.1:p.Pro601Leu
NM_015189.1:c.2141C>T	NP_056004.1:p.Pro714Leu
NM_015189.2:c.2141C>T	NP_056004.1:p.Pro714Leu
NR_135773.1:n.2254+44727C>T
NR_135773.2:n.2245+44727C>T
NR_135774.1:n.1951C>T
NR_135774.2:n.1942C>T
ENST00000272427.10:c.2141C>T	ENSP00000272427.6:p.Pro714Leu
ENST00000471335.5:n.62C>T
ENST00000490919.5:n.80C>T
ENST00000634650.1:c.2141C>T	ENSP00000489442.1:p.Pro714Leu
XM_005264223.1:c.2141C>T	XP_005264280.1:p.Pro714Leu
XM_005264224.1:c.1145C>T	XP_005264281.1:p.Pro382Leu
XM_011532710.1:c.2072C>T	XP_011531012.1:p.Pro691Leu
XM_017003641.1:c.1595C>T	XP_016859130.1:p.Pro532Leu
XM_017003642.1:c.1145C>T	XP_016859131.1:p.Pro382Leu