Canonical Allele Identifier: CA361575569

Gene: DIAPH1

Linked Data

• MyVariant Identifiers: chr5:g.140903774C>A (hg19) ; chr5:g.141524207C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524207C>A , CM000667.2:g.141524207C>A	GRCh38
NC_000005.9:g.140903774C>A , CM000667.1:g.140903774C>A	GRCh37
NC_000005.8:g.140883958C>A	NCBI36
NG_011594.1:g.99849G>T
NG_011594.2:g.99849G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.3597G>T MANE Select	ENSP00000373706.4:p.Met1199Ile
ENST00000448451.6:c.3G>T	ENSP00000408159.2:p.Met1Ile
ENST00000643312.1:c.3G>T	ENSP00000495191.1:p.Met1Ile
ENST00000643718.1:n.77G>T
ENST00000647433.1:c.3597G>T	ENSP00000494675.1:p.Met1199Ile
ENST00000253811.10:c.3465G>T	ENSP00000253811.7:p.Met1155Ile
ENST00000389054.7:c.3597G>T	ENSP00000373706.4:p.Met1199Ile
ENST00000389057.9:c.3570G>T	ENSP00000373709.6:p.Met1190Ile
ENST00000398557.8:c.3597G>T	ENSP00000381565.5:p.Met1199Ile
ENST00000448451.5:c.133G>T
ENST00000468119.3:n.118G>T
ENST00000476339.1:n.549G>T
ENST00000518047.5:c.3570G>T	ENSP00000428268.2:p.Met1190Ile
NM_001079812.2:c.3570G>T	NP_001073280.1:p.Met1190Ile
NM_001314007.1:c.3597G>T	NP_001300936.1:p.Met1199Ile
NM_005219.4:c.3597G>T	NP_005210.3:p.Met1199Ile
XM_011537572.1:c.3561G>T	XP_011535874.1:p.Met1187Ile
XM_011537573.1:c.3531G>T	XP_011535875.1:p.Met1177Ile
XM_024454384.1:c.3720G>T	XP_024310152.1:p.Met1240Ile
XM_024454385.1:c.3693G>T	XP_024310153.1:p.Met1231Ile
XM_024454386.1:c.3684G>T	XP_024310154.1:p.Met1228Ile
XM_024454387.1:c.3654G>T	XP_024310155.1:p.Met1218Ile
NM_005219.5:c.3597G>T MANE Select	NP_005210.3:p.Met1199Ile
NM_001079812.3:c.3570G>T	NP_001073280.1:p.Met1190Ile
NM_001314007.2:c.3597G>T	NP_001300936.1:p.Met1199Ile