Canonical Allele Identifier: CA1941375

Gene: TTC21B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165876188C>G , CM000664.2:g.165876188C>G	GRCh38
NC_000002.11:g.166732698C>G , CM000664.1:g.166732698C>G	GRCh37
NC_000002.10:g.166440944C>G	NCBI36
NG_030345.1:g.82651G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024753.5:c.3850G>C MANE Select	NP_079029.3:p.Asp1284His
ENST00000243344.8:c.3850G>C MANE Select	ENSP00000243344.7:p.Asp1284His
NM_024753.4:c.3850G>C	NP_079029.3:p.Asp1284His
ENST00000243344.7:c.3850G>C	ENSP00000243344.7:p.Asp1284His
ENST00000392695.6:c.750G>C
ENST00000652557.1:c.3805+4491G>C	ENSP00000498617.1:n.3805+4491G>C
ENST00000679356.1:c.3847G>C	ENSP00000506245.1:p.Asp1283His
ENST00000679676.1:c.3739G>C	ENSP00000505492.1:p.Asp1247His
ENST00000679799.1:c.3805+4491G>C	ENSP00000505208.1:n.3805+4491G>C
ENST00000679931.1:c.*2892G>C	ENSP00000505632.1:n.*2892G>C
ENST00000679967.1:c.3841G>C	ENSP00000506607.1:p.Asp1281His
ENST00000680327.1:c.*2892G>C	ENSP00000506639.1:n.*2892G>C
ENST00000680657.1:n.3961G>C
ENST00000680690.1:c.*3102G>C	ENSP00000506121.1:n.*3102G>C
ENST00000680888.1:c.3850G>C	ENSP00000506276.1:p.Asp1284His
ENST00000680947.1:c.*3122G>C	ENSP00000506496.1:n.*3122G>C
ENST00000681024.1:c.*3640G>C	ENSP00000506449.1:n.*3640G>C
ENST00000681083.1:c.*3581G>C	ENSP00000506095.1:n.*3581G>C
ENST00000681167.1:n.3728G>C
ENST00000681483.1:c.*660G>C	ENSP00000505499.1:n.*660G>C
ENST00000681502.1:c.*7110G>C	ENSP00000505644.1:n.*7110G>C
ENST00000681819.1:c.*660G>C	ENSP00000505673.1:n.*660G>C
ENST00000681952.1:c.3850G>C	ENSP00000506400.1:p.Asp1284His
XM_011511870.1:c.3283G>C	XP_011510172.1:p.Asp1095His
XM_011511871.1:c.3100G>C	XP_011510173.1:p.Asp1034His
XM_011511871.3:c.3100G>C	XP_011510173.1:p.Asp1034His
XM_011511872.2:c.*1052G>C	XP_011510174.1:n.*1052G>C
XM_017004968.2:c.3196G>C	XP_016860457.1:p.Asp1066His
XM_017004969.1:c.2851G>C	XP_016860458.1:p.Asp951His