Canonical Allele Identifier: CA341171250

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412473G>A (hg19) ; chr1:g.102946917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946917G>A , CM000663.2:g.102946917G>A	GRCh38
NC_000001.10:g.103412473G>A , CM000663.1:g.103412473G>A	GRCh37
NC_000001.9:g.103185061G>A	NCBI36
NG_008033.1:g.166580C>T
NG_008033.2:g.166580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3208C>T MANE Select	ENSP00000359114.3:p.Pro1070Ser
ENST00000353414.8:c.3091C>T	ENSP00000302551.6:p.Pro1031Ser
ENST00000358392.6:c.3244C>T	ENSP00000351163.2:p.Pro1082Ser
ENST00000370096.7:c.3208C>T	ENSP00000359114.3:p.Pro1070Ser
ENST00000512756.5:c.2860C>T	ENSP00000426533.1:p.Pro954Ser
ENST00000635193.1:c.2542C>T
NM_001190709.1:c.3091C>T	NP_001177638.1:p.Pro1031Ser
NM_001854.3:c.3208C>T	NP_001845.3:p.Pro1070Ser
NM_080629.2:c.3244C>T	NP_542196.2:p.Pro1082Ser
NM_080630.3:c.2860C>T	NP_542197.3:p.Pro954Ser
XM_011540719.1:c.3208C>T	XP_011539021.1:p.Pro1070Ser
XM_011540720.1:c.1441C>T	XP_011539022.1:p.Pro481Ser
XM_011540721.1:c.796C>T	XP_011539023.1:p.Pro266Ser
NR_134980.1:n.3542C>T
XM_017000334.1:c.3361C>T	XP_016855823.1:p.Pro1121Ser
XM_017000335.1:c.3355C>T	XP_016855824.1:p.Pro1119Ser
XM_017000336.1:c.3361C>T	XP_016855825.1:p.Pro1121Ser
XM_017000337.1:c.1759C>T	XP_016855826.1:p.Pro587Ser
NM_001854.4:c.3208C>T MANE Select	NP_001845.3:p.Pro1070Ser
NM_080630.4:c.2860C>T	NP_542197.3:p.Pro954Ser
NR_134980.2:n.3568C>T
NM_001190709.2:c.3091C>T	NP_001177638.1:p.Pro1031Ser
NM_080629.3:c.3244C>T	NP_542196.2:p.Pro1082Ser