Canonical Allele Identifier: CA973428

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102886956A>G , CM000663.2:g.102886956A>G	GRCh38
NC_000001.10:g.103352512A>G , CM000663.1:g.103352512A>G	GRCh37
NC_000001.9:g.103125100A>G	NCBI36
NG_008033.1:g.226541T>C
NG_008033.2:g.226541T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.4709T>C MANE Select	NP_001845.3:p.Leu1570Pro
ENST00000370096.9:c.4709T>C MANE Select	ENSP00000359114.3:p.Leu1570Pro
NM_001190709.1:c.4592T>C	NP_001177638.1:p.Leu1531Pro
NM_001190709.2:c.4592T>C	NP_001177638.1:p.Leu1531Pro
NM_001854.3:c.4709T>C	NP_001845.3:p.Leu1570Pro
NM_080629.2:c.4745T>C	NP_542196.2:p.Leu1582Pro
NM_080629.3:c.4745T>C	NP_542196.2:p.Leu1582Pro
NM_080630.3:c.4361T>C	NP_542197.3:p.Leu1454Pro
NM_080630.4:c.4361T>C	NP_542197.3:p.Leu1454Pro
NR_134980.1:n.5043T>C
NR_134980.2:n.5069T>C
ENST00000353414.8:c.4592T>C	ENSP00000302551.6:p.Leu1531Pro
ENST00000358392.6:c.4745T>C	ENSP00000351163.2:p.Leu1582Pro
ENST00000370096.7:c.4709T>C	ENSP00000359114.3:p.Leu1570Pro
ENST00000512756.5:c.4361T>C	ENSP00000426533.1:p.Leu1454Pro
ENST00000635193.1:c.4043T>C
XM_011540720.1:c.2942T>C	XP_011539022.1:p.Leu981Pro
XM_011540721.1:c.2297T>C	XP_011539023.1:p.Leu766Pro
XM_017000334.1:c.4862T>C	XP_016855823.1:p.Leu1621Pro
XM_017000335.1:c.4856T>C	XP_016855824.1:p.Leu1619Pro
XM_017000337.1:c.3260T>C	XP_016855826.1:p.Leu1087Pro