Canonical Allele Identifier: CA2576317236

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50190161-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190161T>G , CM000679.2:g.50190161T>G	GRCh38
NC_000017.10:g.48267522T>G , CM000679.1:g.48267522T>G	GRCh37
NC_000017.9:g.45622521T>G	NCBI36
NG_007400.1:g.16479A>C , LRG_1:g.16479A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2452-53A>C MANE Select	ENSP00000225964.6:n.2452-53A>C
ENST00000225964.9:c.2452-53A>C	ENSP00000225964.5:n.2452-53A>C
NM_000088.3:c.2452-53A>C , LRG_1t1:c.2452-53A>C	NP_000079.2:n.2452-53A>C
XM_005257058.3:c.2452-53A>C	XP_005257115.2:n.2452-53A>C
XM_005257059.3:c.1534-53A>C	XP_005257116.2:n.1534-53A>C
XM_011524341.1:c.2254-53A>C	XP_011522643.1:n.2254-53A>C
XM_005257058.4:c.2452-53A>C	XP_005257115.2:n.2452-53A>C
XM_005257059.4:c.1534-53A>C	XP_005257116.2:n.1534-53A>C
NM_000088.4:c.2452-53A>C MANE Select	NP_000079.2:n.2452-53A>C