Canonical Allele Identifier: CA388276896

Gene: TBC1D4

Linked Data

• MyVariant Identifiers: chr13:g.75898426T>G (hg19) ; chr13:g.75324290T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75324290T>G , CM000675.2:g.75324290T>G	GRCh38
NC_000013.10:g.75898426T>G , CM000675.1:g.75898426T>G	GRCh37
NC_000013.9:g.74796427T>G	NCBI36
NG_042850.1:g.162879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2145A>C MANE Select	ENSP00000366863.3:p.Lys715Asn
ENST00000648194.1:c.1490+1907A>C	ENSP00000496983.1:n.1490+1907A>C
ENST00000377625.6:c.2033+1907A>C	ENSP00000366852.2:n.2033+1907A>C
ENST00000377636.7:c.2145A>C	ENSP00000366863.3:p.Lys715Asn
ENST00000413735.1:c.569+1907A>C	ENSP00000396932.1:n.569+1907A>C
ENST00000431480.6:c.2145A>C	ENSP00000395986.2:p.Lys715Asn
ENST00000488955.1:n.166A>C
NM_001286658.1:c.2145A>C	NP_001273587.1:p.Lys715Asn
NM_001286658.2:c.2145A>C	NP_001273587.1:p.Lys715Asn
NM_001286659.1:c.2033+1907A>C	NP_001273588.1:n.2033+1907A>C
NM_001286659.2:c.2033+1907A>C	NP_001273588.1:n.2033+1907A>C
NM_014832.3:c.2145A>C	NP_055647.2:p.Lys715Asn
NM_014832.4:c.2145A>C	NP_055647.2:p.Lys715Asn
XM_005266603.1:c.2070A>C	XP_005266660.1:p.Lys690Asn
XM_005266605.1:c.1602A>C	XP_005266662.1:p.Lys534Asn
XM_006719903.2:c.1671A>C	XP_006719966.1:p.Lys557Asn
XM_011535331.1:c.2034A>C	XP_011533633.1:p.Lys678Asn
XM_005266603.2:c.2070A>C	XP_005266660.1:p.Lys690Asn
XM_005266605.3:c.1602A>C	XP_005266662.1:p.Lys534Asn
XM_006719903.3:c.1671A>C	XP_006719966.1:p.Lys557Asn
XM_011535331.2:c.2034A>C	XP_011533633.1:p.Lys678Asn
XM_017020882.2:c.1490+1907A>C	XP_016876371.1:n.1490+1907A>C
XM_017020883.2:c.1379+1907A>C	XP_016876372.1:n.1379+1907A>C
NM_014832.5:c.2145A>C MANE Select	NP_055647.2:p.Lys715Asn