Canonical Allele Identifier: CA363778925

Gene: TULP1

Linked Data

• MyVariant Identifiers: chr6:g.35467896T>G (hg19) ; chr6:g.35500119T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500119T>G , CM000668.2:g.35500119T>G	GRCh38
NC_000006.11:g.35467896T>G , CM000668.1:g.35467896T>G	GRCh37
NC_000006.10:g.35575874T>G	NCBI36
NG_009077.1:g.17752A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1357A>C MANE Select	ENSP00000229771.6:p.Lys453Gln
ENST00000229771.10:c.1357A>C	ENSP00000229771.6:p.Lys453Gln
ENST00000322263.8:c.1198A>C	ENSP00000319414.4:p.Lys400Gln
ENST00000495781.1:n.533A>C
ENST00000614066.4:c.1351A>C	ENSP00000477534.1:p.Lys451Gln
NM_001289395.1:c.1198A>C	NP_001276324.1:p.Lys400Gln
NM_003322.4:c.1357A>C	NP_003313.3:p.Lys453Gln
NM_003322.5:c.1357A>C	NP_003313.3:p.Lys453Gln
NM_003322.6:c.1357A>C MANE Select	NP_003313.3:p.Lys453Gln
NM_001289395.2:c.1198A>C	NP_001276324.1:p.Lys400Gln