Canonical Allele Identifier: CA2499218241

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503547T>C , CM000668.2:g.35503547T>C	GRCh38
NC_000006.11:g.35471324T>C , CM000668.1:g.35471324T>C	GRCh37
NC_000006.10:g.35579302T>C	NCBI36
NG_009077.1:g.14324A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.1323+12A>G MANE Select	NP_003313.3:n.1323+12A>G
ENST00000229771.11:c.1323+12A>G MANE Select	ENSP00000229771.6:n.1323+12A>G
NM_001289395.1:c.1164+12A>G	NP_001276324.1:n.1164+12A>G
NM_001289395.2:c.1164+12A>G	NP_001276324.1:n.1164+12A>G
NM_003322.4:c.1323+12A>G	NP_003313.3:n.1323+12A>G
NM_003322.5:c.1323+12A>G	NP_003313.3:n.1323+12A>G
ENST00000229771.10:c.1323+12A>G	ENSP00000229771.6:n.1323+12A>G
ENST00000322263.8:c.1164+12A>G	ENSP00000319414.4:n.1164+12A>G
ENST00000495781.1:n.499+12A>G
ENST00000496434.5:n.352A>G
ENST00000614066.4:c.1317+12A>G	ENSP00000477534.1:n.1317+12A>G