Canonical Allele Identifier: CA341439

Gene: COL9A1

Linked Data

• ClinVar Variation Id: 17195
• ClinVar RCV Id: RCV000018735 ; RCV001420255
• dbSNP Id: rs121912931
• gnomAD v4: 6-70281033-G-A
• MyVariant Identifiers: chr6:g.70990736G>A (hg19) ; chr6:g.70281033G>A (hg38)
• PubMed: PMID:16909383 ; PMID:20301479 ; PMID:21421862

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70281033G>A , CM000668.2:g.70281033G>A	GRCh38
NC_000006.11:g.70990736G>A , CM000668.1:g.70990736G>A	GRCh37
NC_000006.10:g.71047457G>A	NCBI36
NG_011654.1:g.27051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.154C>T	ENSP00000506990.1:p.Arg52Ter
ENST00000683758.1:c.154C>T	ENSP00000508147.1:p.Arg52Ter
ENST00000683980.1:c.154C>T	ENSP00000506990.1:p.Arg52Ter
ENST00000684176.1:n.225C>T
ENST00000320755.12:c.154C>T	ENSP00000315252.7:p.Arg52Ter
ENST00000357250.11:c.883C>T MANE Select	ENSP00000349790.6:p.Arg295Ter
ENST00000644493.1:c.154C>T	ENSP00000495638.1:p.Arg52Ter
ENST00000320755.11:c.154C>T	ENSP00000315252.7:p.Arg52Ter
ENST00000357250.10:c.883C>T	ENSP00000349790.6:p.Arg295Ter
ENST00000370496.3:c.883C>T	ENSP00000359527.3:p.Arg295Ter
NM_001851.4:c.883C>T	NP_001842.3:p.Arg295Ter
NM_078485.3:c.154C>T	NP_511040.2:p.Arg52Ter
XM_011535429.1:c.883C>T	XP_011533731.1:p.Arg295Ter
XM_011535430.1:c.154C>T	XP_011533732.1:p.Arg52Ter
XM_011535429.3:c.883C>T	XP_011533731.1:p.Arg295Ter
XM_011535430.3:c.154C>T	XP_011533732.1:p.Arg52Ter
XM_017010246.2:c.334C>T	XP_016865735.1:p.Arg112Ter
NM_001377289.1:c.154C>T	NP_001364218.1:p.Arg52Ter
NM_001377290.1:c.154C>T	NP_001364219.1:p.Arg52Ter
NM_001377291.1:c.883C>T	NP_001364220.1:p.Arg295Ter
NM_001851.5:c.883C>T	NP_001842.3:p.Arg295Ter
NM_078485.4:c.154C>T	NP_511040.2:p.Arg52Ter
NR_165185.1:n.299C>T
NM_001851.6:c.883C>T MANE Select	NP_001842.3:p.Arg295Ter