Canonical Allele Identifier: CA363779392

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503808C>G , CM000668.2:g.35503808C>G	GRCh38
NC_000006.11:g.35471585C>G , CM000668.1:g.35471585C>G	GRCh37
NC_000006.10:g.35579563C>G	NCBI36
NG_009077.1:g.14063G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.1153G>C MANE Select	NP_003313.3:p.Gly385Arg
ENST00000229771.11:c.1153G>C MANE Select	ENSP00000229771.6:p.Gly385Arg
NM_001289395.1:c.994G>C	NP_001276324.1:p.Gly332Arg
NM_001289395.2:c.994G>C	NP_001276324.1:p.Gly332Arg
NM_003322.4:c.1153G>C	NP_003313.3:p.Gly385Arg
NM_003322.5:c.1153G>C	NP_003313.3:p.Gly385Arg
ENST00000229771.10:c.1153G>C	ENSP00000229771.6:p.Gly385Arg
ENST00000322263.8:c.994G>C	ENSP00000319414.4:p.Gly332Arg
ENST00000373892.4:n.755G>C
ENST00000495781.1:n.329G>C
ENST00000496434.5:n.170G>C
ENST00000614066.4:c.1147G>C	ENSP00000477534.1:p.Gly383Arg