Canonical Allele Identifier: CA449776500

Gene: TUBB

Linked Data

• gnomAD v4: 6-30723803-T-C
• MyVariant Identifiers: chr6:g.30691580T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723803T>C , CM000668.2:g.30723803T>C	GRCh38
NC_000006.11:g.30691580T>C , CM000668.1:g.30691580T>C	GRCh37
NC_000006.10:g.30799559T>C	NCBI36
NG_034142.1:g.8603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.741T>C MANE Select	ENSP00000339001.7:p.Asn247=
ENST00000680530.1:n.1603T>C
ENST00000681421.1:n.1807T>C
ENST00000681435.1:c.525T>C	ENSP00000506665.1:p.Asn175=
ENST00000327892.12:c.741T>C	ENSP00000339001.7:p.Asn247=
ENST00000330914.7:c.525T>C	ENSP00000365578.2:p.Asn175=
ENST00000396384.1:c.525T>C	ENSP00000379668.1:p.Asn175=
ENST00000396389.5:c.687T>C	ENSP00000379672.1:p.Asn229=
NM_001293212.1:c.801T>C	NP_001280141.1:p.Asn267=
NM_001293213.1:c.370-235T>C	NP_001280142.1:n.370-235T>C
NM_001293214.1:c.609T>C	NP_001280143.1:p.Asn203=
NM_001293215.1:c.525T>C	NP_001280144.1:p.Asn175=
NM_001293216.1:c.525T>C	NP_001280145.1:p.Asn175=
NM_178014.3:c.741T>C	NP_821133.1:p.Asn247=
NR_120608.1:n.584-136T>C
NM_178014.4:c.741T>C MANE Select	NP_821133.1:p.Asn247=
NM_001293212.2:c.801T>C	NP_001280141.1:p.Asn267=
NM_001293213.2:c.370-235T>C	NP_001280142.1:n.370-235T>C
NM_001293214.2:c.609T>C	NP_001280143.1:p.Asn203=
NM_001293215.2:c.525T>C	NP_001280144.1:p.Asn175=
NM_001293216.2:c.525T>C	NP_001280145.1:p.Asn175=
NR_120608.2:n.433-136T>C