Canonical Allele Identifier: CA341171125

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412458C>A (hg19) ; chr1:g.102946902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946902C>A , CM000663.2:g.102946902C>A	GRCh38
NC_000001.10:g.103412458C>A , CM000663.1:g.103412458C>A	GRCh37
NC_000001.9:g.103185046C>A	NCBI36
NG_008033.1:g.166595G>T
NG_008033.2:g.166595G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3223G>T MANE Select	ENSP00000359114.3:p.Gly1075Trp
ENST00000353414.8:c.3106G>T	ENSP00000302551.6:p.Gly1036Trp
ENST00000358392.6:c.3259G>T	ENSP00000351163.2:p.Gly1087Trp
ENST00000370096.7:c.3223G>T	ENSP00000359114.3:p.Gly1075Trp
ENST00000512756.5:c.2875G>T	ENSP00000426533.1:p.Gly959Trp
ENST00000635193.1:c.2557G>T
NM_001190709.1:c.3106G>T	NP_001177638.1:p.Gly1036Trp
NM_001854.3:c.3223G>T	NP_001845.3:p.Gly1075Trp
NM_080629.2:c.3259G>T	NP_542196.2:p.Gly1087Trp
NM_080630.3:c.2875G>T	NP_542197.3:p.Gly959Trp
XM_011540719.1:c.3223G>T	XP_011539021.1:p.Gly1075Trp
XM_011540720.1:c.1456G>T	XP_011539022.1:p.Gly486Trp
XM_011540721.1:c.811G>T	XP_011539023.1:p.Gly271Trp
NR_134980.1:n.3557G>T
XM_017000334.1:c.3376G>T	XP_016855823.1:p.Gly1126Trp
XM_017000335.1:c.3370G>T	XP_016855824.1:p.Gly1124Trp
XM_017000336.1:c.3376G>T	XP_016855825.1:p.Gly1126Trp
XM_017000337.1:c.1774G>T	XP_016855826.1:p.Gly592Trp
NM_001854.4:c.3223G>T MANE Select	NP_001845.3:p.Gly1075Trp
NM_080630.4:c.2875G>T	NP_542197.3:p.Gly959Trp
NR_134980.2:n.3583G>T
NM_001190709.2:c.3106G>T	NP_001177638.1:p.Gly1036Trp
NM_080629.3:c.3259G>T	NP_542196.2:p.Gly1087Trp