Canonical Allele Identifier: CA341163750

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102979098-C-A
• MyVariant Identifiers: chr1:g.103444654C>A (hg19) ; chr1:g.102979098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979098C>A , CM000663.2:g.102979098C>A	GRCh38
NC_000001.10:g.103444654C>A , CM000663.1:g.103444654C>A	GRCh37
NC_000001.9:g.103217242C>A	NCBI36
NG_008033.1:g.134399G>T
NG_008033.2:g.134399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2617G>T MANE Select	ENSP00000359114.3:p.Ala873Ser
ENST00000353414.8:c.2500G>T	ENSP00000302551.6:p.Ala834Ser
ENST00000358392.6:c.2653G>T	ENSP00000351163.2:p.Ala885Ser
ENST00000370096.7:c.2617G>T	ENSP00000359114.3:p.Ala873Ser
ENST00000512756.5:c.2269G>T	ENSP00000426533.1:p.Ala757Ser
ENST00000635193.1:c.1951G>T
NM_001190709.1:c.2500G>T	NP_001177638.1:p.Ala834Ser
NM_001854.3:c.2617G>T	NP_001845.3:p.Ala873Ser
NM_080629.2:c.2653G>T	NP_542196.2:p.Ala885Ser
NM_080630.3:c.2269G>T	NP_542197.3:p.Ala757Ser
XM_011540719.1:c.2617G>T	XP_011539021.1:p.Ala873Ser
XM_011540720.1:c.850G>T	XP_011539022.1:p.Ala284Ser
XM_011540721.1:c.205G>T	XP_011539023.1:p.Ala69Ser
XR_946545.1:n.3031G>T
NR_134980.1:n.2951G>T
XM_017000334.1:c.2770G>T	XP_016855823.1:p.Ala924Ser
XM_017000335.1:c.2764G>T	XP_016855824.1:p.Ala922Ser
XM_017000336.1:c.2770G>T	XP_016855825.1:p.Ala924Ser
XM_017000337.1:c.1168G>T	XP_016855826.1:p.Ala390Ser
NM_001854.4:c.2617G>T MANE Select	NP_001845.3:p.Ala873Ser
NM_080630.4:c.2269G>T	NP_542197.3:p.Ala757Ser
NR_134980.2:n.2977G>T
NM_001190709.2:c.2500G>T	NP_001177638.1:p.Ala834Ser
NM_080629.3:c.2653G>T	NP_542196.2:p.Ala885Ser