Canonical Allele Identifier: CA1611281950

Gene: TBC1D7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.13307307G>A , CM000668.2:g.13307307G>A	GRCh38
NC_000006.11:g.13307539G>A , CM000668.1:g.13307539G>A	GRCh37
NC_000006.10:g.13415518G>A	NCBI36
NG_033862.1:g.26277C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016495.6:c.665+293C>T MANE Select	NP_057579.1:n.665+293C>T
ENST00000379300.8:c.665+293C>T MANE Select	ENSP00000368602.3:n.665+293C>T
NM_001143964.3:c.665+293C>T	NP_001137436.1:n.665+293C>T
NM_001143964.4:c.665+293C>T	NP_001137436.1:n.665+293C>T
NM_001143965.3:c.665+293C>T	NP_001137437.1:n.665+293C>T
NM_001143965.4:c.665+293C>T	NP_001137437.1:n.665+293C>T
NM_001143966.3:c.584+293C>T	NP_001137438.1:n.584+293C>T
NM_001143966.4:c.584+293C>T	NP_001137438.1:n.584+293C>T
NM_001258457.2:c.527+293C>T	NP_001245386.1:n.527+293C>T
NM_001258457.3:c.527+293C>T	NP_001245386.1:n.527+293C>T
NM_001318805.1:c.665+293C>T	NP_001305734.1:n.665+293C>T
NM_001318805.2:c.665+293C>T	NP_001305734.1:n.665+293C>T
NM_001318809.1:c.665+293C>T	NP_001305738.1:n.665+293C>T
NM_001318809.2:c.665+293C>T	NP_001305738.1:n.665+293C>T
NM_016495.5:c.665+293C>T	NP_057579.1:n.665+293C>T
NR_134872.1:n.655+9264C>T
NR_134872.2:n.609+9264C>T
ENST00000343141.8:c.527+293C>T	ENSP00000343100.4:n.527+293C>T
ENST00000356436.8:c.665+293C>T	ENSP00000348813.4:n.665+293C>T
ENST00000379300.7:c.665+293C>T	ENSP00000368602.3:n.665+293C>T
ENST00000379307.6:c.584+293C>T	ENSP00000368609.2:n.584+293C>T
ENST00000421203.6:c.519+9264C>T	ENSP00000401438.2:n.519+9264C>T
ENST00000422136.5:c.665+293C>T	ENSP00000394425.1:n.665+293C>T
ENST00000446018.5:c.584+293C>T	ENSP00000417005.1:n.584+293C>T
ENST00000450347.5:c.584+293C>T	ENSP00000404680.1:n.584+293C>T
ENST00000452989.5:c.584+293C>T	ENSP00000414292.1:n.584+293C>T
ENST00000606214.5:c.665+293C>T	ENSP00000475727.1:n.665+293C>T
ENST00000607532.5:n.1215C>T
ENST00000607658.5:c.588+289C>T	ENSP00000475191.1:n.588+289C>T
XM_005249163.2:c.665+293C>T	XP_005249220.1:n.665+293C>T
XM_005249164.1:c.665+293C>T	XP_005249221.1:n.665+293C>T
XM_005249166.1:c.584+293C>T	XP_005249223.1:n.584+293C>T
XM_005249167.1:c.584+293C>T	XP_005249224.1:n.584+293C>T
XM_011514652.1:c.665+293C>T	XP_011512954.1:n.665+293C>T
XM_011514653.1:c.584+293C>T	XP_011512955.1:n.584+293C>T
XM_011514654.1:c.527+293C>T	XP_011512956.1:n.527+293C>T
XR_926241.1:n.965+289C>T