Canonical Allele Identifier: CA984448836

Gene: COL1A1

Linked Data

• dbSNP Id: rs775550896
• gnomAD v3: 17-50188500-G-T
• gnomAD v4: 17-50188500-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188500G>T , CM000679.2:g.50188500G>T	GRCh38
NC_000017.10:g.48265861G>T , CM000679.1:g.48265861G>T	GRCh37
NC_000017.9:g.45620860G>T	NCBI36
NG_007400.1:g.18140C>A , LRG_1:g.18140C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+30C>A MANE Select	ENSP00000225964.6:n.3207+30C>A
ENST00000225964.9:c.3207+30C>A	ENSP00000225964.5:n.3207+30C>A
ENST00000486572.1:n.55C>A
ENST00000511732.1:n.181C>A
NM_000088.3:c.3207+30C>A , LRG_1t1:c.3207+30C>A	NP_000079.2:n.3207+30C>A
XM_005257058.3:c.2937+30C>A	XP_005257115.2:n.2937+30C>A
XM_005257059.3:c.2289+30C>A	XP_005257116.2:n.2289+30C>A
XM_011524341.1:c.3009+30C>A	XP_011522643.1:n.3009+30C>A
XM_005257058.4:c.2937+30C>A	XP_005257115.2:n.2937+30C>A
XM_005257059.4:c.2289+30C>A	XP_005257116.2:n.2289+30C>A
NM_000088.4:c.3207+30C>A MANE Select	NP_000079.2:n.3207+30C>A