Canonical Allele Identifier: CA3882632

Gene: COL9A1

Linked Data

• ClinVar Variation Id: 374336
• ClinVar RCV Id: RCV000415246 ; RCV000579034 ; RCV001334962 ; RCV004529569
• dbSNP Id: rs149830493
• ExAC: 6:70991091 A / T
• gnomAD v2: 6-70991091-A-T
• gnomAD v3: 6-70281388-A-T
• gnomAD v4: 6-70281388-A-T
• MyVariant Identifiers: chr6:g.70991091A>T (hg19) ; chr6:g.70281388A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70281388A>T , CM000668.2:g.70281388A>T	GRCh38
NC_000006.11:g.70991091A>T , CM000668.1:g.70991091A>T	GRCh37
NC_000006.10:g.71047812A>T	NCBI36
NG_011654.1:g.26696T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.147+2T>A	ENSP00000506990.1:n.147+2T>A
ENST00000683758.1:c.147+2T>A	ENSP00000508147.1:n.147+2T>A
ENST00000683980.1:c.147+2T>A	ENSP00000506990.1:n.147+2T>A
ENST00000684176.1:n.218+2T>A
ENST00000320755.12:c.147+2T>A	ENSP00000315252.7:n.147+2T>A
ENST00000357250.11:c.876+2T>A MANE Select	ENSP00000349790.6:n.876+2T>A
ENST00000644493.1:c.147+2T>A	ENSP00000495638.1:n.147+2T>A
ENST00000320755.11:c.147+2T>A	ENSP00000315252.7:n.147+2T>A
ENST00000357250.10:c.876+2T>A	ENSP00000349790.6:n.876+2T>A
ENST00000370496.3:c.876+2T>A	ENSP00000359527.3:n.876+2T>A
NM_001851.4:c.876+2T>A	NP_001842.3:n.876+2T>A
NM_078485.3:c.147+2T>A	NP_511040.2:n.147+2T>A
XM_011535429.1:c.876+2T>A	XP_011533731.1:n.876+2T>A
XM_011535430.1:c.147+2T>A	XP_011533732.1:n.147+2T>A
XM_011535429.3:c.876+2T>A	XP_011533731.1:n.876+2T>A
XM_011535430.3:c.147+2T>A	XP_011533732.1:n.147+2T>A
XM_017010246.2:c.327+2T>A	XP_016865735.1:n.327+2T>A
NM_001377289.1:c.147+2T>A	NP_001364218.1:n.147+2T>A
NM_001377290.1:c.147+2T>A	NP_001364219.1:n.147+2T>A
NM_001377291.1:c.876+2T>A	NP_001364220.1:n.876+2T>A
NM_001851.5:c.876+2T>A	NP_001842.3:n.876+2T>A
NM_078485.4:c.147+2T>A	NP_511040.2:n.147+2T>A
NR_165185.1:n.292+2T>A
NM_001851.6:c.876+2T>A MANE Select	NP_001842.3:n.876+2T>A