Canonical Allele Identifier: CA7003800

Gene: TBC1D4

Linked Data

• dbSNP Id: rs763684864
• ExAC: 13:75898428 T / G
• gnomAD v2: 13-75898428-T-G
• gnomAD v3: 13-75324292-T-G
• gnomAD v4: 13-75324292-T-G
• MyVariant Identifiers: chr13:g.75898428T>G (hg19) ; chr13:g.75324292T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75324292T>G , CM000675.2:g.75324292T>G	GRCh38
NC_000013.10:g.75898428T>G , CM000675.1:g.75898428T>G	GRCh37
NC_000013.9:g.74796429T>G	NCBI36
NG_042850.1:g.162877A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2143A>C MANE Select	ENSP00000366863.3:p.Lys715Gln
ENST00000648194.1:c.1490+1905A>C	ENSP00000496983.1:n.1490+1905A>C
ENST00000377625.6:c.2033+1905A>C	ENSP00000366852.2:n.2033+1905A>C
ENST00000377636.7:c.2143A>C	ENSP00000366863.3:p.Lys715Gln
ENST00000413735.1:c.569+1905A>C	ENSP00000396932.1:n.569+1905A>C
ENST00000431480.6:c.2143A>C	ENSP00000395986.2:p.Lys715Gln
ENST00000488955.1:n.164A>C
NM_001286658.1:c.2143A>C	NP_001273587.1:p.Lys715Gln
NM_001286658.2:c.2143A>C	NP_001273587.1:p.Lys715Gln
NM_001286659.1:c.2033+1905A>C	NP_001273588.1:n.2033+1905A>C
NM_001286659.2:c.2033+1905A>C	NP_001273588.1:n.2033+1905A>C
NM_014832.3:c.2143A>C	NP_055647.2:p.Lys715Gln
NM_014832.4:c.2143A>C	NP_055647.2:p.Lys715Gln
XM_005266603.1:c.2068A>C	XP_005266660.1:p.Lys690Gln
XM_005266605.1:c.1600A>C	XP_005266662.1:p.Lys534Gln
XM_006719903.2:c.1669A>C	XP_006719966.1:p.Lys557Gln
XM_011535331.1:c.2032A>C	XP_011533633.1:p.Lys678Gln
XM_005266603.2:c.2068A>C	XP_005266660.1:p.Lys690Gln
XM_005266605.3:c.1600A>C	XP_005266662.1:p.Lys534Gln
XM_006719903.3:c.1669A>C	XP_006719966.1:p.Lys557Gln
XM_011535331.2:c.2032A>C	XP_011533633.1:p.Lys678Gln
XM_017020882.2:c.1490+1905A>C	XP_016876371.1:n.1490+1905A>C
XM_017020883.2:c.1379+1905A>C	XP_016876372.1:n.1379+1905A>C
NM_014832.5:c.2143A>C MANE Select	NP_055647.2:p.Lys715Gln