Canonical Allele Identifier: CA984450719
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1907263700
gnomAD v3: 17-50193310-C-T
gnomAD v4: 17-50193310-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50193310C>T , CM000679.2:g.50193310C>T GRCh38
NC_000017.10:g.48270671C>T , CM000679.1:g.48270671C>T GRCh37
NC_000017.9:g.45625670C>T NCBI36
NG_007400.1:g.13330G>A , LRG_1:g.13330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1768-263G>A MANE Select ENSP00000225964.6:n.1768-263G>A
ENST00000225964.9:c.1768-263G>A ENSP00000225964.5:n.1768-263G>A
ENST00000476387.1:n.117-263G>A
NM_000088.3:c.1768-263G>A , LRG_1t1:c.1768-263G>A NP_000079.2:n.1768-263G>A
XM_005257058.3:c.1768-263G>A XP_005257115.2:n.1768-263G>A
XM_005257059.3:c.958-617G>A XP_005257116.2:n.958-617G>A
XM_011524341.1:c.1570-263G>A XP_011522643.1:n.1570-263G>A
XM_005257058.4:c.1768-263G>A XP_005257115.2:n.1768-263G>A
XM_005257059.4:c.958-617G>A XP_005257116.2:n.958-617G>A
NM_000088.4:c.1768-263G>A MANE Select NP_000079.2:n.1768-263G>A
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