Canonical Allele Identifier: CA277736960

Gene: CIITA

Linked Data

• dbSNP Id: rs901206559
• gnomAD v3: 16-10902067-C-T
• gnomAD v4: 16-10902067-C-T
• MyVariant Identifiers: chr16:g.10995924C>T (hg19) ; chr16:g.10902067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902067C>T , CM000678.2:g.10902067C>T	GRCh38
NC_000016.9:g.10995924C>T , CM000678.1:g.10995924C>T	GRCh37
NC_000016.8:g.10903425C>T	NCBI36
NG_009628.1:g.29870C>T , LRG_49:g.29870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.536C>T
ENST00000324288.14:c.511C>T MANE Select	ENSP00000316328.8:p.Leu171Phe
ENST00000637439.1:c.745C>T	ENSP00000489907.1:p.Leu249Phe
ENST00000324288.12:c.511C>T	ENSP00000316328.8:p.Leu171Phe
ENST00000381835.9:c.481+509C>T	ENSP00000371257.5:n.481+509C>T
ENST00000537380.1:n.511C>T
ENST00000570546.5:n.632C>T
ENST00000571186.5:c.*232C>T	ENSP00000459829.1:n.*232C>T
ENST00000573309.5:n.599+509C>T
ENST00000576601.1:c.439C>T	ENSP00000459608.1:p.Leu147Phe
ENST00000611587.4:c.484+509C>T	ENSP00000483487.1:n.484+509C>T
ENST00000618207.4:c.511C>T	ENSP00000484761.1:p.Leu171Phe
ENST00000618327.4:c.514C>T	ENSP00000485010.1:p.Leu172Phe
NM_000246.3:c.511C>T , LRG_49t1:c.511C>T	NP_000237.2:p.Leu171Phe
NM_001286402.1:c.514C>T	NP_001273331.1:p.Leu172Phe
NM_001286403.1:c.481+509C>T	NP_001273332.1:n.481+509C>T
NR_104444.1:n.644C>T
XM_006720880.2:c.808C>T	XP_006720943.2:p.Leu270Phe
XM_011522484.1:c.808C>T	XP_011520786.1:p.Leu270Phe
XM_011522485.1:c.808C>T	XP_011520787.1:p.Leu270Phe
XM_011522486.1:c.808C>T	XP_011520788.1:p.Leu270Phe
XM_011522487.1:c.679+509C>T	XP_011520789.1:n.679+509C>T
XM_011522488.1:c.559C>T	XP_011520790.1:p.Leu187Phe
XM_011522489.1:c.676+509C>T	XP_011520791.1:n.676+509C>T
XM_011522490.1:c.556C>T	XP_011520792.1:p.Leu186Phe
XM_011522491.1:c.808C>T	XP_011520793.1:p.Leu270Phe
XM_011522492.1:c.514C>T	XP_011520794.1:p.Leu172Phe
XM_011522493.1:c.511C>T	XP_011520795.1:p.Leu171Phe
XM_011522494.1:c.442C>T	XP_011520796.1:p.Leu148Phe
XM_011522495.1:c.484+509C>T	XP_011520797.1:n.484+509C>T
XM_011522496.1:c.481+509C>T	XP_011520798.1:n.481+509C>T
XR_932841.1:n.823C>T
XR_932842.1:n.823C>T
XR_932843.1:n.823C>T
XR_932846.1:n.823C>T
XR_932847.1:n.823C>T
XR_932848.1:n.631+509C>T
XM_006720880.3:c.808C>T	XP_006720943.2:p.Leu270Phe
XM_011522484.3:c.808C>T	XP_011520786.1:p.Leu270Phe
XM_011522485.2:c.808C>T	XP_011520787.1:p.Leu270Phe
XM_011522486.2:c.808C>T	XP_011520788.1:p.Leu270Phe
XM_011522487.2:c.679+509C>T	XP_011520789.1:n.679+509C>T
XM_011522488.2:c.559C>T	XP_011520790.1:p.Leu187Phe
XM_011522489.2:c.676+509C>T	XP_011520791.1:n.676+509C>T
XM_011522490.2:c.556C>T	XP_011520792.1:p.Leu186Phe
XM_011522491.2:c.808C>T	XP_011520793.1:p.Leu270Phe
XM_011522492.2:c.514C>T	XP_011520794.1:p.Leu172Phe
XM_011522493.2:c.511C>T	XP_011520795.1:p.Leu171Phe
XM_011522494.2:c.442C>T	XP_011520796.1:p.Leu148Phe
XM_011522495.2:c.484+509C>T	XP_011520797.1:n.484+509C>T
XM_011522496.2:c.481+509C>T	XP_011520798.1:n.481+509C>T
XM_024450280.1:c.754C>T	XP_024306048.1:p.Leu252Phe
XM_024450281.1:c.724+509C>T	XP_024306049.1:n.724+509C>T
XR_001751904.1:n.827C>T
XR_932841.3:n.825C>T
XR_932842.2:n.825C>T
XR_932846.3:n.827C>T
XR_932847.3:n.827C>T
NM_001286403.2:c.481+509C>T	NP_001273332.1:n.481+509C>T
NR_104444.2:n.640C>T
NM_000246.4:c.511C>T MANE Select	NP_000237.2:p.Leu171Phe
NM_001379330.1:c.484+509C>T	NP_001366259.1:n.484+509C>T
NM_001379331.1:c.481+509C>T	NP_001366260.1:n.481+509C>T
NM_001379332.1:c.514C>T	NP_001366261.1:p.Leu172Phe
NM_001379333.1:c.511C>T	NP_001366262.1:p.Leu171Phe
NM_001379334.1:c.442C>T	NP_001366263.1:p.Leu148Phe