Canonical Allele Identifier: CA341171097

Gene: COL11A1

Linked Data

• dbSNP Id: rs148464130
• gnomAD v2: 1-103412454-C-A
• gnomAD v4: 1-102946898-C-A
• MyVariant Identifiers: chr1:g.103412454C>A (hg19) ; chr1:g.102946898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946898C>A , CM000663.2:g.102946898C>A	GRCh38
NC_000001.10:g.103412454C>A , CM000663.1:g.103412454C>A	GRCh37
NC_000001.9:g.103185042C>A	NCBI36
NG_008033.1:g.166599G>T
NG_008033.2:g.166599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3227G>T MANE Select	ENSP00000359114.3:p.Arg1076Leu
ENST00000353414.8:c.3110G>T	ENSP00000302551.6:p.Arg1037Leu
ENST00000358392.6:c.3263G>T	ENSP00000351163.2:p.Arg1088Leu
ENST00000370096.7:c.3227G>T	ENSP00000359114.3:p.Arg1076Leu
ENST00000512756.5:c.2879G>T	ENSP00000426533.1:p.Arg960Leu
ENST00000635193.1:c.2561G>T
NM_001190709.1:c.3110G>T	NP_001177638.1:p.Arg1037Leu
NM_001854.3:c.3227G>T	NP_001845.3:p.Arg1076Leu
NM_080629.2:c.3263G>T	NP_542196.2:p.Arg1088Leu
NM_080630.3:c.2879G>T	NP_542197.3:p.Arg960Leu
XM_011540719.1:c.3227G>T	XP_011539021.1:p.Arg1076Leu
XM_011540720.1:c.1460G>T	XP_011539022.1:p.Arg487Leu
XM_011540721.1:c.815G>T	XP_011539023.1:p.Arg272Leu
NR_134980.1:n.3561G>T
XM_017000334.1:c.3380G>T	XP_016855823.1:p.Arg1127Leu
XM_017000335.1:c.3374G>T	XP_016855824.1:p.Arg1125Leu
XM_017000336.1:c.3380G>T	XP_016855825.1:p.Arg1127Leu
XM_017000337.1:c.1778G>T	XP_016855826.1:p.Arg593Leu
NM_001854.4:c.3227G>T MANE Select	NP_001845.3:p.Arg1076Leu
NM_080630.4:c.2879G>T	NP_542197.3:p.Arg960Leu
NR_134980.2:n.3587G>T
NM_001190709.2:c.3110G>T	NP_001177638.1:p.Arg1037Leu
NM_080629.3:c.3263G>T	NP_542196.2:p.Arg1088Leu