Canonical Allele Identifier: CA984451946

Gene: COL1A1

Linked Data

• dbSNP Id: rs963486973
• gnomAD v3: 17-50196836-C-A
• gnomAD v4: 17-50196836-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196836C>A , CM000679.2:g.50196836C>A	GRCh38
NC_000017.10:g.48274197C>A , CM000679.1:g.48274197C>A	GRCh37
NC_000017.9:g.45629196C>A	NCBI36
NG_007400.1:g.9804G>T , LRG_1:g.9804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.805-166G>T MANE Select	ENSP00000225964.6:n.805-166G>T
ENST00000225964.9:c.805-166G>T	ENSP00000225964.5:n.805-166G>T
ENST00000495677.1:n.532-166G>T
NM_000088.3:c.805-166G>T , LRG_1t1:c.805-166G>T	NP_000079.2:n.805-166G>T
XM_005257058.3:c.805-166G>T	XP_005257115.2:n.805-166G>T
XM_005257059.3:c.805-166G>T	XP_005257116.2:n.805-166G>T
XM_011524341.1:c.805-166G>T	XP_011522643.1:n.805-166G>T
XM_005257058.4:c.805-166G>T	XP_005257115.2:n.805-166G>T
XM_005257059.4:c.805-166G>T	XP_005257116.2:n.805-166G>T
NM_000088.4:c.805-166G>T MANE Select	NP_000079.2:n.805-166G>T