Canonical Allele Identifier: CA380642068

Gene: CD6

Linked Data

• gnomAD v4: 11-61009656-T-C
• MyVariant Identifiers: chr11:g.60777128T>C (hg19) ; chr11:g.61009656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61009656T>C , CM000673.2:g.61009656T>C	GRCh38
NC_000011.9:g.60777128T>C , CM000673.1:g.60777128T>C	GRCh37
NC_000011.8:g.60533704T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313421.11:c.866T>C MANE Select	ENSP00000323280.7:p.Val289Ala
ENST00000344931.9:c.866T>C	ENSP00000340334.5:p.Val289Ala
ENST00000352009.9:c.866T>C	ENSP00000340628.5:p.Val289Ala
ENST00000433107.6:c.781+811T>C	ENSP00000410638.2:n.781+811T>C
ENST00000452451.6:c.866T>C	ENSP00000390676.2:p.Val289Ala
ENST00000538611.1:c.312+811T>C
ENST00000542157.5:c.781+811T>C	ENSP00000440055.1:n.781+811T>C
ENST00000545105.5:n.247-191T>C
NM_001254750.1:c.866T>C	NP_001241679.1:p.Val289Ala
NM_001254751.1:c.866T>C	NP_001241680.1:p.Val289Ala
NM_006725.4:c.866T>C	NP_006716.3:p.Val289Ala
NR_045638.1:n.1091T>C
XM_006718738.1:c.866T>C	XP_006718801.1:p.Val289Ala
XM_006718739.1:c.866T>C	XP_006718802.1:p.Val289Ala
XM_006718740.1:c.866T>C	XP_006718803.1:p.Val289Ala
XM_006718741.1:c.866T>C	XP_006718804.1:p.Val289Ala
XM_011545360.1:c.866T>C	XP_011543662.1:p.Val289Ala
XM_011545361.1:c.866T>C	XP_011543663.1:p.Val289Ala
XM_011545362.1:c.781+811T>C	XP_011543664.1:n.781+811T>C
XM_006718738.2:c.866T>C	XP_006718801.1:p.Val289Ala
XM_006718739.2:c.866T>C	XP_006718802.1:p.Val289Ala
XM_006718740.2:c.866T>C	XP_006718803.1:p.Val289Ala
XM_006718741.2:c.866T>C	XP_006718804.1:p.Val289Ala
XM_011545360.2:c.866T>C	XP_011543662.1:p.Val289Ala
XM_011545362.2:c.781+811T>C	XP_011543664.1:n.781+811T>C
NM_006725.5:c.866T>C MANE Select	NP_006716.3:p.Val289Ala
NM_001254750.2:c.866T>C	NP_001241679.1:p.Val289Ala
NM_001254751.2:c.866T>C	NP_001241680.1:p.Val289Ala
NR_045638.2:n.1052T>C