Canonical Allele Identifier: CA449776670

Gene: TUBB

Linked Data

• gnomAD v4: 6-30723878-T-C
• MyVariant Identifiers: chr6:g.30691655T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723878T>C , CM000668.2:g.30723878T>C	GRCh38
NC_000006.11:g.30691655T>C , CM000668.1:g.30691655T>C	GRCh37
NC_000006.10:g.30799634T>C	NCBI36
NG_034142.1:g.8678T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.816T>C MANE Select	ENSP00000339001.7:p.Pro272=
ENST00000680530.1:n.1678T>C
ENST00000681421.1:n.1882T>C
ENST00000681435.1:c.600T>C	ENSP00000506665.1:p.Pro200=
ENST00000327892.12:c.816T>C	ENSP00000339001.7:p.Pro272=
ENST00000330914.7:c.600T>C	ENSP00000365578.2:p.Pro200=
ENST00000396384.1:c.600T>C	ENSP00000379668.1:p.Pro200=
ENST00000396389.5:c.762T>C	ENSP00000379672.1:p.Pro254=
NM_001293212.1:c.876T>C	NP_001280141.1:p.Pro292=
NM_001293213.1:c.370-160T>C	NP_001280142.1:n.370-160T>C
NM_001293214.1:c.684T>C	NP_001280143.1:p.Pro228=
NM_001293215.1:c.600T>C	NP_001280144.1:p.Pro200=
NM_001293216.1:c.600T>C	NP_001280145.1:p.Pro200=
NM_178014.3:c.816T>C	NP_821133.1:p.Pro272=
NR_120608.1:n.584-61T>C
NM_178014.4:c.816T>C MANE Select	NP_821133.1:p.Pro272=
NM_001293212.2:c.876T>C	NP_001280141.1:p.Pro292=
NM_001293213.2:c.370-160T>C	NP_001280142.1:n.370-160T>C
NM_001293214.2:c.684T>C	NP_001280143.1:p.Pro228=
NM_001293215.2:c.600T>C	NP_001280144.1:p.Pro200=
NM_001293216.2:c.600T>C	NP_001280145.1:p.Pro200=
NR_120608.2:n.433-61T>C