Canonical Allele Identifier: CA354929177
Gene: CP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149177881A>T , CM000665.2:g.149177881A>T GRCh38
NC_000003.11:g.148895668A>T , CM000665.1:g.148895668A>T GRCh37
NC_000003.10:g.150378358A>T NCBI36
NG_011800.1:g.49165T>A
NG_011800.2:g.49165T>A
NG_011800.3:g.49165T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264613.11:c.2977T>A MANE Select ENSP00000264613.6:p.Leu993Ile
ENST00000264613.10:c.2977T>A ENSP00000264613.6:p.Leu993Ile
ENST00000460674.5:n.894T>A
ENST00000463556.5:n.499T>A
ENST00000473296.1:n.27T>A
ENST00000479771.5:c.382T>A ENSP00000420367.1:p.Leu128Ile
ENST00000481169.5:c.2764T>A ENSP00000418773.1:p.Leu922Ile
ENST00000490639.5:n.3009T>A
ENST00000494544.1:c.2326T>A ENSP00000420545.1:p.Leu776Ile
NM_000096.3:c.2977T>A NP_000087.1:p.Leu993Ile
NR_046371.1:n.3017T>A
XM_006713499.2:c.2977T>A XP_006713562.1:p.Leu993Ile
XM_006713500.2:c.2977T>A XP_006713563.1:p.Leu993Ile
XM_006713501.2:c.2977T>A XP_006713564.1:p.Leu993Ile
XM_011512435.1:c.2977T>A XP_011510737.1:p.Leu993Ile
XR_427361.2:n.3235T>A
XM_006713499.3:c.2977T>A XP_006713562.1:p.Leu993Ile
XM_006713500.4:c.2977T>A XP_006713563.1:p.Leu993Ile
XM_006713501.3:c.2977T>A XP_006713564.1:p.Leu993Ile
XM_011512435.2:c.2977T>A XP_011510737.1:p.Leu993Ile
XM_017005734.2:c.2977T>A XP_016861223.1:p.Leu993Ile
XM_017005735.2:c.2977T>A XP_016861224.1:p.Leu993Ile
XR_427361.3:n.3193T>A
NM_000096.4:c.2977T>A MANE Select NP_000087.2:p.Leu993Ile
NR_046371.2:n.2801T>A