Canonical Allele Identifier: CA364663508

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70274060G>T , CM000668.2:g.70274060G>T	GRCh38
NC_000006.11:g.70983763G>T , CM000668.1:g.70983763G>T	GRCh37
NC_000006.10:g.71040484G>T	NCBI36
NG_011654.1:g.34024C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.1052C>A MANE Select	NP_001842.3:p.Ser351Ter
ENST00000357250.11:c.1052C>A MANE Select	ENSP00000349790.6:p.Ser351Ter
NM_001377289.1:c.323C>A	NP_001364218.1:p.Ser108Ter
NM_001377290.1:c.323C>A	NP_001364219.1:p.Ser108Ter
NM_001851.4:c.1052C>A	NP_001842.3:p.Ser351Ter
NM_001851.5:c.1052C>A	NP_001842.3:p.Ser351Ter
NM_078485.3:c.323C>A	NP_511040.2:p.Ser108Ter
NM_078485.4:c.323C>A	NP_511040.2:p.Ser108Ter
NR_165185.1:n.573C>A
ENST00000320755.11:c.323C>A	ENSP00000315252.7:p.Ser108Ter
ENST00000320755.12:c.323C>A	ENSP00000315252.7:p.Ser108Ter
ENST00000357250.10:c.1052C>A	ENSP00000349790.6:p.Ser351Ter
ENST00000470652.1:n.483C>A
ENST00000489611.5:n.198C>A
ENST00000644493.1:c.*89C>A	ENSP00000495638.1:n.*89C>A
ENST00000683758.1:c.323C>A	ENSP00000508147.1:p.Ser108Ter
ENST00000683980.1:c.323C>A	ENSP00000506990.1:p.Ser108Ter
ENST00000683980.2:c.323C>A	ENSP00000506990.1:p.Ser108Ter
ENST00000684176.1:n.394C>A
XM_011535429.1:c.1052C>A	XP_011533731.1:p.Ser351Ter
XM_011535429.3:c.1052C>A	XP_011533731.1:p.Ser351Ter
XM_011535430.1:c.323C>A	XP_011533732.1:p.Ser108Ter
XM_011535430.3:c.323C>A	XP_011533732.1:p.Ser108Ter
XM_017010246.2:c.503C>A	XP_016865735.1:p.Ser168Ter
XM_017010247.2:c.-230C>A	XP_016865736.1:n.-230C>A